{ "id": 24226, "label": "Mendelian neurodevelopmental disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0100500", "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome." }, "isLeaf": false, "isRoot": false, "child_count": 275, "parents": [ { "id": 24270, "label": "hereditary neurological disease", "isLeaf": false, "isRoot": false, "parents": [ 5714, 6799 ], "type_id": 0, "properties": { "synonyms": [ "neurogenetic disease" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles." }, "child_count": 528, "reference_id": "MONDO:0100545" }, { "id": 24488, "label": "neurodevelopmental disorder", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0010642", "MEDGEN:453059", "MESH:D065886", "MedDRA:10064062", "NCIT:C89338", "SCTID:700364009", "UMLS:C1535926" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions." }, "child_count": 18, "reference_id": "MONDO:0700092" } ], "children": [ { "id": 2760, "label": "microcephaly and chorioretinopathy", "isLeaf": false, "isRoot": false, "parents": [ 3394, 6458, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003611", "OMIMPS:251270" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 9, "reference_id": "MONDO:0000181" }, { "id": 9251, "label": "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability", "isLeaf": true, "isRoot": false, "parents": [ 2903, 3394, 4370, 19000, 19154, 23165, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060349", "GARD:0003622", "MEDGEN:320559", "MESH:C537711", "OMIM:152950", "Orphanet:2526", "UMLS:C1835265" ], "synonyms": [ "KIF11-associated disorder", "MCLMR", "MLCRD", "MLCRD syndrome", "lymphedema, microcephaly and chorioretinopathy syndrome", "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability", "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation", "microcephaly, lymphedema, chorioretinal dysplasia syndrome", "KIF11 disease", "microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A microcephaly caused by a mutation in KIF11 gene and follows autosomal dominant inheritance. It is characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0007918" }, { "id": 9314, "label": "autosomal dominant primary microcephaly", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4427, 16088, 16689, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061100", "DOID:14725", "GARD:0003605", "MEDGEN:66319", "MESH:C537323", "OMIM:156580", "Orphanet:2514", "UMLS:C0220693", "icd11.foundation:774437947" ], "synonyms": [ "autosomal dominant primary microcephaly", "microcephaly (disease), autosomal dominant", "autosomal dominant microcephaly", "microcephaly autosomal dominant", "microcephaly with autosomal dominant inheritance", "microcephaly, autosomal dominant" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal dominant form of microcephaly (disease)." }, "child_count": 15, "reference_id": "MONDO:0007988" }, { "id": 9606, "label": "Prader-Willi syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 4427, 16088, 16526, 18950, 23791, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11983", "GARD:0005575", "ICD10CM:Q87.11", "ICD9:759.81", "MEDGEN:46057", "MESH:D011218", "MedDRA:10036476", "NANDO:1200678", "NANDO:2200411", "NCIT:C75463", "NORD:1602", "OMIM:176270", "Orphanet:739", "SCTID:89392001", "UMLS:C0032897", "icd11.foundation:393773440" ], "synonyms": [ "Prader-Labhart-Willi syndrome", "Prader-Willi syndrome", "Prader-Willi-Labhart syndrome", "Willi-Prader syndrome", "PWS", "Prader-Willi syndrome chromosome region", "Prader-Willi-like syndrome associated with chromosome 6", "obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet", "obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005039", "name": "reproductive system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005151", "name": "endocrine system disorder" } ], "definition": "Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems." }, "child_count": 35, "reference_id": "MONDO:0008300" }, { "id": 9727, "label": "Smith-Magenis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2961, 3128, 4427, 16087, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:8", "DOID:0060768", "GARD:0008197", "ICD9:758.33", "MEDGEN:162881", "MESH:D058496", "NANDO:1200687", "NANDO:2200954", "NCIT:C75469", "NORD:1725", "OMIM:182290", "Orphanet:819", "SCTID:401315004", "UMLS:C0795864", "icd11.foundation:989025532" ], "synonyms": [ "17p11.2 microdeletion syndrome", "SMITH-Magenis syndrome", "SMS", "Smith Magenis Syndrome", "Smith-Magenis syndrome", "Smith-Magenis syndrome, Isolated cases", "chromosome 17P11.2 deletion syndrome", "chromosome 17p11.2 deletion syndrome", "Smith-Magenis chromosome region", "Smith-Magenis syndrome chromosome region" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." }, "child_count": 0, "reference_id": "MONDO:0008434" }, { "id": 10136, "label": "microcephalic osteodysplastic primordial dwarfism type I", "isLeaf": true, "isRoot": false, "parents": [ 2712, 7171, 17405, 24226, 24283 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060608", "GARD:0015144", "MEDGEN:347149", "OMIM:210710", "SCTID:254102008", "UMLS:C1859452" ], "synonyms": [ "MOPD 1", "MOPD1", "Taybi-Linder syndrome", "brachymelic primordial dwarfism", "cephaloskeletal dysplasia", "low-birth-weight dwarfism with skeletal dysplasia", "microcephalic osteodysplastic primordial dwarfism, type 1", "microcephalic osteodysplastic primordial dwarfism, type I", "osteodysplastic primordial dwarfism, type 1" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits." }, "child_count": 0, "reference_id": "MONDO:0008871" }, { "id": 10137, "label": "microcephalic osteodysplastic primordial dwarfism type II", "isLeaf": true, "isRoot": false, "parents": [ 2712, 7171, 24226, 24802 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060609", "GARD:0009844", "MEDGEN:96587", "MESH:C565898", "OMIM:210720", "Orphanet:2637", "SCTID:254103003", "UMLS:C0432246" ], "synonyms": [ "MOPD type II", "Majewski osteodysplastic primordial dwarfism type II", "MOPD II", "MOPD2", "Mopd 2", "microcephalic osteodysplastic primordial dwarfism type 2", "microcephalic osteodysplastic primordial dwarfism with tooth abnormalities", "microcephalic osteodysplastic primordial dwarfism, type 2", "microcephalic osteodysplastic primordial dwarfism, type II", "osteodysplastic primordial dwarfism type 2", "osteodysplastic primordial dwarfism, type 2" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease." }, "child_count": 0, "reference_id": "MONDO:0008872" }, { "id": 10138, "label": "microcephalic osteodysplastic primordial dwarfism, type 3", "isLeaf": true, "isRoot": false, "parents": [ 2712, 17405, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0015145", "MEDGEN:349167", "MESH:C537320", "OMIM:210730", "UMLS:C1859439" ], "synonyms": [ "Mopd 3", "Mopd, Caroline Crachami type", "Mopd, Sicilian fairy type", "microcephalic osteodysplastic primordial dwarfism, Caroline Crachami type", "microcephalic osteodysplastic primordial dwarfism, Sicilian fairy type", "microcephalic osteodysplastic primordial dwarfism, type III", "osteodysplastic primordial dwarfism, type 3" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0008873" }, { "id": 11601, "label": "CK syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2961, 20383, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111898", "GARD:0017210", "MEDGEN:463131", "OMIM:300831", "Orphanet:251383", "UMLS:C3151781" ], "synonyms": [ "CK syndrome", "CK syndrome, X-linked recessive", "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome", "intellectual disability, X-linked, with thin body habitus and cortical malformation", "mental retardation, X-linked, with thin body habitus and cortical malformation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010441" }, { "id": 11845, "label": "orofaciodigital syndrome I", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24226, 29269 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060316", "GARD:0004121", "MEDGEN:307142", "MESH:C537134", "NCIT:C75481", "OMIM:311200", "Orphanet:2750", "SCTID:763833006", "UMLS:C1510460" ], "synonyms": [ "OFD syndrome 1", "OFD1", "OFDI", "OFDS 1", "OFDSI", "Papillon-Leage and Psaume syndrome", "Papillon-Léage-Psaume syndrome", "Papillon-league-Psaume syndrome (formerly)", "oral facial digital syndrome 1", "oral facial digital syndrome type 1", "oral-facial-digital syndrome 1", "oral-facial-digital syndrome type 1", "oral-facial-digital syndrome, type 1", "orofaciodigital syndrome 1", "orofaciodigital syndrome I", "orofaciodigital syndrome i, X-linked dominant", "orofaciodigital syndrome type 1", "orofaciodigital syndrome type I" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." }, "child_count": 0, "reference_id": "MONDO:0010702" }, { "id": 11866, "label": "Rett syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3009, 4370, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1206", "GARD:0005696", "ICD9:330.8", "MEDGEN:48441", "MESH:D015518", "MedDRA:10039000", "NANDO:1200603", "NANDO:1200604", "NANDO:2100219", "NANDO:2200825", "NCIT:C75488", "NORD:1666", "OMIM:312750", "Orphanet:778", "SCTID:68618008", "UMLS:C0035372", "icd11.foundation:201200685" ], "synonyms": [ "RTS", "RTT", "Rett syndrome", "Rett syndrome, X-linked dominant", "Rett syndrome, atypical, X-linked dominant", "Rett syndrome, preserved speech variant, X-linked dominant", "Rett’s disease", "Rett syndrome, Zappella variant", "Rett syndrome, atypical", "Rett syndrome, preserved speech variant", "autism, dementia, ataxia, and loss of purposeful hand use" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A severe neurodevelopmental disorder affecting the central nervous system." }, "child_count": 0, "reference_id": "MONDO:0010726" }, { "id": 11898, "label": "Wieacker-Wolff syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 21691, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060815", "GARD:0007890", "MEDGEN:163227", "MESH:C536703", "MESH:C537472", "NORD:91159", "OMIM:314580", "Orphanet:3454", "Orphanet:85283", "SCTID:719012009", "SCTID:722456001", "UMLS:C0796200" ], "synonyms": [ "MCS", "MRXS4", "Miles-CARPENTER X-linked mental retardation syndrome", "Miles-Carpenter syndrome", "WRWF", "WRWFXLR", "Wieacker Wolff syndrome", "Wieacker syndrome", "Wieacker-Wolff syndrome", "Wieacker-Wolff syndrome, X-linked", "Wieacker-Wolff syndrome, X-linked recessive", "X-linked intellectual disability, Miles-Carpenter type", "ZC4H2-Associated Rare Disorders (ZARD)", "apraxia, oculomotor, with congenital contractures and muscle atrophy", "contractures of feet, muscle atrophy, and oculomotor apraxia", "foot contractures-muscle atrophy-oculomotor apraxia syndrome", "intellectual disability-developmental delay-contractures syndrome", "mental retardation, X-linked, syndromic 4", "mental retardation, X-linked, with congenital contractures and Low fingertip arches", "mental retardation, X-linked, with congenital contractures and low fingertip arches" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0010758" }, { "id": 12874, "label": "Amish lethal microcephaly", "isLeaf": true, "isRoot": false, "parents": [ 2745, 3394, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0008606", "MEDGEN:375938", "MESH:C538247", "OMIM:607196", "Orphanet:99742", "SCTID:702437000", "UMLS:C1846648" ], "synonyms": [ "Amish lethal microcephaly", "MCPHA", "microcephaly, Amish type", "thiamine metabolism dysfunction syndrome 3 (microcephaly type)" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." }, "child_count": 0, "reference_id": "MONDO:0011790" }, { "id": 14071, "label": "cerebral palsy, spastic quadriplegic, 2", "isLeaf": true, "isRoot": false, "parents": [ 16798, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081360", "GARD:0018309", "MEDGEN:442880", "MESH:C567867", "OMIM:612900", "UMLS:C2752061" ], "synonyms": [ "KANK1 spastic quadriplegia", "cerebral palsy, spastic quadriplegic, 2", "cerebral palsy, spastic quadriplegic, type 2", "spastic quadriplegia caused by mutation in KANK1", "CPSQ2" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene." }, "child_count": 0, "reference_id": "MONDO:0013033" }, { "id": 14712, "label": "Pitt-Hopkins-like syndrome 2", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16908, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111332", "GARD:0022416", "GARD:0024939", "MEDGEN:1842499", "MEDGEN:482109", "OMIM:614325", "Orphanet:600663", "UMLS:C3280479", "UMLS:C5681528" ], "synonyms": [ "NRXN1 Pitt-Hopkins-like syndrome", "NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance", "PTHSL2", "Pitt-Hopkins-like syndrome 2", "Pitt-Hopkins-like syndrome caused by mutation in NRXN1", "Pitt-Hopkins-like syndrome type 2" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene." }, "child_count": 0, "reference_id": "MONDO:0013690" }, { "id": 15230, "label": "developmental delay with autism spectrum disorder and gait instability", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081203", "GARD:0017496", "MEDGEN:816083", "OMIM:615516", "Orphanet:329195", "UMLS:C3809753" ], "synonyms": [ "developmental delay with ASD and gait instability", "intellectual developmental disorder, autosomal recessive 38", "intellectual disability, autosomal recessive type 38", "mental retardation, autosomal recessive type 38", "MRT38", "intellectual disability, autosomal recessive 38", "mental retardation, autosomal recessive 38" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior." }, "child_count": 0, "reference_id": "MONDO:0014224" }, { "id": 15339, "label": "complex cortical dysplasia with other brain malformations 5", "isLeaf": true, "isRoot": false, "parents": [ 3180, 23895, 24226, 24241 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090135", "GARD:0027070", "GARD:0027859", "MEDGEN:816737", "OMIM:615763", "UMLS:C3810407" ], "synonyms": [ "CDCBM5", "TUBB2A complex cortical dysplasia with other brain malformations", "TUBB2A-related tubulinopathy", "complex cortical dysplasia with other brain malformations caused by mutation in TUBB2A", "complex cortical dysplasia with other brain malformations type 5", "cortical dysplasia, Complex, with Other brain malformations type 5", "cortical dysplasia, complex, with other brain malformations 5" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene." }, "child_count": 0, "reference_id": "MONDO:0014337" }, { "id": 15360, "label": "AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2961, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070055", "GARD:0013409", "MEDGEN:862856", "OMIM:615829", "Orphanet:412069", "UMLS:C4014419" ], "synonyms": [ "AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome", "Xia-Gibbs syndrome", "autosomal dominant intellectual disability 25", "intellectual disability, autosomal dominant 25", "mental retardation, autosomal dominant 25" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014358" }, { "id": 15481, "label": "intellectual disability, autosomal dominant 29", "isLeaf": true, "isRoot": false, "parents": [ 2903, 4370, 23791, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070059", "GARD:0013379", "MEDGEN:863578", "NORD:1958", "OMIM:616078", "UMLS:C4015141" ], "synonyms": [ "MRD29", "SETBP1 Haploinsufficiency Disorder", "SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome", "SETBP1-related complex neurodevelopmental disorder", "autosomal dominant intellectual disability 29", "autosomal dominant mental retardation 29", "intellectual disability, autosomal dominant type 29", "intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1", "mental retardation, autosomal dominant type 29", "SETBP1 disorder", "SETBP1 related developmental delay", "SETBP1-related disorder", "SETBP1-related intellectual disability", "mental retardation, autosomal dominant 29" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal dominant complex neurodevelopmental disorder caused by haploinsufficiency and/or loss-of-function variants in the SETBP1 gene and characterized by intellectual disability, autism, speech difficulty, motor and developmental delays, seizures, hypotonia, behavior challenges, and facial dysmorphisms." }, "child_count": 0, "reference_id": "MONDO:0014482" }, { "id": 15694, "label": "Au-Kline syndrome", "isLeaf": true, "isRoot": false, "parents": [ 18672, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004064", "MEDGEN:900671", "MESH:C565736", "OMIM:604916", "OMIM:616580", "Orphanet:2729", "Orphanet:453504", "SCTID:722065002", "UMLS:C4225274" ], "synonyms": [ "AUKS", "Au-Kline syndrome", "Okamoto syndrome", "hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disability", "hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation", "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation", "congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and intellectual disability", "congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and mental retardation" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014700" }, { "id": 15799, "label": "cerebellar atrophy, visual impairment, and psychomotor retardation;", "isLeaf": true, "isRoot": false, "parents": [ 24226, 24241 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081276", "GARD:0027055", "MEDGEN:905041", "OMIM:616875", "UMLS:C4225172" ], "synonyms": [ "CAVIPMR", "cerebellar atrophy, visual impairment, and psychomotor retardation" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014811" }, { "id": 15839, "label": "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0009645", "GARD:0017902", "MEDGEN:1798900", "OMIM:616975", "Orphanet:494344", "UMLS:C5567477" ], "synonyms": [ "NEDBEH", "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart", "neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; NEDBEH", "rere-related neurodevelopmental syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014857" }, { "id": 15844, "label": "cerebral palsy, spastic quadriplegic, 3", "isLeaf": true, "isRoot": false, "parents": [ 16798, 24226, 24241 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081361", "GARD:0018310", "MEDGEN:934734", "OMIM:617008", "UMLS:C4310767" ], "synonyms": [ "ADD3 spastic quadriplegia", "CPSQ3", "cerebral palsy, spastic quadriplegic, 3", "cerebral palsy, spastic quadriplegic, 3; CPSQ3", "cerebral palsy, spastic quadriplegic, type 3", "spastic quadriplegia caused by mutation in ADD3" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene." }, "child_count": 0, "reference_id": "MONDO:0014862" }, { "id": 15874, "label": "Okur-Chung neurodevelopmental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0015008", "MEDGEN:934706", "OMIM:617062", "Orphanet:689422", "UMLS:C4310739" ], "synonyms": [ "OCNDS", "Okur-Chung neurodevelopmental syndrome", "Okur-Chung neurodevelopmental syndrome; OCNDS" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014893" }, { "id": 15937, "label": "Harel-Yoon syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081395", "GARD:0017915", "MEDGEN:934644", "OMIM:617183", "Orphanet:496790", "UMLS:C4310677" ], "synonyms": [ "HAYOS", "Harel-Yoon syndrome", "Harel-Yoon syndrome; HAYOS", "optic atrophy-peripheral neuropathy-developmental delay syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy." }, "child_count": 0, "reference_id": "MONDO:0014958" }, { "id": 15971, "label": "neurodevelopmental disorder with hypotonia, seizures, and absent language", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:934610", "OMIM:617268", "UMLS:C4310643" ], "synonyms": [ "NDHSAL", "neurodevelopmental disorder with hypotonia, seizures, and absent language", "neurodevelopmental disorder with hypotonia, seizures, and absent language; NDHSAL" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014995" }, { "id": 16815, "label": "alternating hemiplegia of childhood", "isLeaf": false, "isRoot": false, "parents": [ 3414, 16794, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050635", "GARD:0000011", "MEDGEN:90925", "MESH:C536589", "NANDO:1200403", "NANDO:1200525", "NANDO:2100239", "NANDO:2200357", "NANDO:2200883", "NCIT:C35261", "NORD:758", "OMIMPS:104290", "Orphanet:2131", "SCTID:230466004", "UMLS:C0338488", "icd11.foundation:301329822" ], "synonyms": [ "AHC", "adrenal hypoplasia congenita", "alternating hemiplegia of childhood", "childhood alternating hemiplegia", "congenital adrenal Hypoplasia", "congenital adrenal gland hypoplasia", "paediatric alternating hemiplegia", "pediatric alternating hemiplegia", "alternating hemiplegia", "alternating hemiplegia syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment." }, "child_count": 9, "reference_id": "MONDO:0016241" }, { "id": 17129, "label": "autosomal recessive primary microcephaly", "isLeaf": false, "isRoot": false, "parents": [ 7611, 16689, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070296", "GARD:0012117", "MEDGEN:777995", "MESH:C579935", "OMIMPS:251200", "Orphanet:2512", "SCTID:715981004", "UMLS:C3711387" ], "synonyms": [ "true microcephaly", "MCPH", "microcephalia vera", "microcephaly vera", "microcephaly, primary autosomal recessive", "microcephaly, primary, autosomal recessive" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." }, "child_count": 87, "reference_id": "MONDO:0016660" }, { "id": 19058, "label": "Rubinstein-Taybi syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2961, 4427, 16087, 18362, 18956, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DECIPHER:7", "DOID:1933", "GARD:0007593", "ICD9:759.89", "MEDGEN:48517", "MESH:D012415", "MedDRA:10039281", "NANDO:1200461", "NANDO:2200955", "NCIT:C75466", "NORD:1682", "OMIMPS:180849", "Orphanet:783", "SCTID:45582004", "UMLS:C0035934", "icd11.foundation:692585833" ], "synonyms": [ "Broad thumb-hallux syndrome", "Broad thumbs-halluces syndrome", "Rubinstein-Taybi Syndrome", "RSTS" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics." }, "child_count": 18, "reference_id": "MONDO:0019188" }, { "id": 20224, "label": "neurodevelopmental disorder with cerebellar atrophy and with or without seizures", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1648373", "OMIM:618056", "UMLS:C4748032" ], "synonyms": [ "NEDCAS", "neurodevelopmental disorder with cerebellar atrophy and with or without seizures" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An an autosomal recessive disorder characterized by intellectual disability associated with ataxia, in which the cause of the disease is a variation in the BRAT1 gene." }, "child_count": 0, "reference_id": "MONDO:0020841" }, { "id": 21807, "label": "neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027922", "MEDGEN:1714862", "OMIM:618859", "UMLS:C5394311" ], "synonyms": [ "NEDASB", "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES", "neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030024" }, { "id": 21808, "label": "neurodevelopmental disorder with hypotonia, microcephaly, and seizures", "isLeaf": true, "isRoot": false, "parents": [ 24226 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"MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030037" }, { "id": 21825, "label": "neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1711516", "OMIM:618890", "UMLS:C5394423" ], "synonyms": [ "NEDBASS", "NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY", "neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030046" }, { "id": 21836, "label": "neurodevelopmental disorder with language impairment and behavioral abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 23791, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027923", "MEDGEN:1708389", "OMIM:618917", "UMLS:C5394502" ], "synonyms": [ "GRIA2-related complex neurodevelopmental disorder", "NEDLIB", "NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES", "neurodevelopmental disorder with language impairment and behavioral abnormalities" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030060" }, { "id": 21839, "label": "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018524", "MEDGEN:1708579", "OMIM:618922", "UMLS:C5394517" ], "synonyms": [ "NEDSHBA", "NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES", "neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities", "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities" ], "categories": [ { 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Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. 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{ "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030866" }, { "id": 22135, "label": "neurodevelopmental disorder with or without early-onset generalized epilepsy", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018539", "MEDGEN:1737097", "OMIM:619157", "UMLS:C5436914" ], "synonyms": [ "NEDEGE" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030930" }, { "id": 22180, "label": "neurodevelopmental disorder with or without autism or seizures", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061147", "GARD:0018540", "MEDGEN:1784023", "OMIM:619239", "UMLS:C5543225" ], "synonyms": [ "NEDAUS", "neurodevelopmental disorder with or without autism or seizures" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030994" }, { "id": 22185, "label": "neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018542", "MEDGEN:1786662", "OMIM:619244", "UMLS:C5543228" ], "synonyms": [ "NEDCAFD" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030999" }, { "id": 22195, "label": "neurodevelopmental disorder with dysmorphic facies and variable seizures", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018543", "MEDGEN:1784197", "OMIM:619264", "UMLS:C5543268" ], "synonyms": [ "NEDDFAS" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0031011" }, { "id": 22257, "label": "squalene synthase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027939", "MEDGEN:1648421", "OMIM:618156", "UMLS:C4748427" ], "synonyms": [ "SQSD", "SQUALENE SYNTHASE DEFICIENCY", "neurodevelopmental disorder with low cholesterol and abnormal urine organic acids" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032566" }, { "id": 22280, "label": "intellectual developmental disorder and retinitis pigmentosa; IDDRP", "isLeaf": true, "isRoot": false, "parents": [ 3324, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016306", "MEDGEN:1648358", "OMIM:618195", "UMLS:C4748658" ], "synonyms": [ "IDDRP", "INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032594" }, { "id": 22341, "label": "neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018515", "MEDGEN:1648291", "OMIM:618292", "UMLS:C4749014" ], "synonyms": [ "NEDIDHA", "NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032661" }, { "id": 22371, "label": "Houge-Janssens syndrome 3", "isLeaf": true, "isRoot": false, "parents": [ 24226, 25718 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1677130", "OMIM:618354", "UMLS:C5193048" ], "synonyms": [ "NEDLBA", "neurodevelopmental disorder and language delay with or without structural brain abnormalities" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032697" }, { "id": 22372, "label": "neurodevelopmental disorder with central and peripheral motor dysfunction", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1674767", "OMIM:618356", "UMLS:C5193049" ], "synonyms": [ "NEDCPMD", "NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032698" }, { "id": 22376, "label": "neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination", "isLeaf": true, "isRoot": false, "parents": [ 17632, 18952, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018018", "MEDGEN:1684142", "OMIM:618367", "Orphanet:597874", "UMLS:C5193057" ], "synonyms": [ "5,10-methenyltetrahydrofolate synthetase deficiency", "MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome", "NEDMEHM", "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND 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syndrome", "developmental delay with variable intellectual impairment and behavioral abnormalities" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by a mutation in TCF gene, characterized by impaired intellectual development with speech difficulties and behavioral abnormalities, most commonly autism spectrum disorder (ASD), defects in attention, and/or hyperactivity." }, "child_count": 0, "reference_id": "MONDO:0032745" }, { "id": 22413, "label": "neurodevelopmental disorder with or without variable brain abnormalities; NEDBA", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027941", "MEDGEN:1675664", "OMIM:618443", "UMLS:C5193102" ], "synonyms": [ "NEDBA", "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032755" }, { "id": 22432, "label": "neurodevelopmental disorder with seizures and speech and walking impairment", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1672912", "OMIM:618480", "UMLS:C5193119" ], "synonyms": [ "deoxyhypusine synthase disorder", "NEDSSWI", "NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032775" }, { "id": 22436, "label": "neurodevelopmental disorder with microcephaly and structural brain anomalies", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1677276", "OMIM:618492", "Orphanet:699844", "UMLS:C5193123" ], "synonyms": [ "NEDMIBA", "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032779" }, { "id": 22441, "label": "neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1678038", "OMIM:618497", "UMLS:C5193128" ], "synonyms": [ "NEDNEH", "NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032784" }, { "id": 22447, "label": "neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081443", "MEDGEN:1682403", "OMIM:618505", "UMLS:C5193134" ], "synonyms": [ "NEDCFSA", "NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032790" }, { "id": 22464, "label": "neurodevelopmental disorder with visual defects and brain anomalies", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1684774", "OMIM:618547", "UMLS:C5231404" ], "synonyms": [ "NEDVIBA", "NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032807" }, { "id": 22473, "label": "neurodevelopmental disorder with ataxia, hypotonia, and microcephaly", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018519", "MEDGEN:1684871", "OMIM:618569", "UMLS:C5231413" ], "synonyms": [ "NEDAHM", "NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032816" }, { "id": 22474, "label": "neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070346", "MEDGEN:1684661", "OMIM:618571", "UMLS:C5231414" ], "synonyms": [ "NDCAGF", "NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032817" }, { "id": 22475, "label": "neurodevelopmental disorder with cerebellar hypoplasia and spasticity", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1684815", "OMIM:618572", "UMLS:C5231415" ], "synonyms": [ "NEDCHS", "NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032818" }, { "id": 22477, "label": "neurodevelopmental disorder with structural brain anomalies and dysmorphic facies", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027135", "MEDGEN:1684725", "OMIM:618577", "Orphanet:659609", "UMLS:C5231416" ], "synonyms": [ "NEDBAF", "NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032820" }, { "id": 22485, "label": "neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1684818", "OMIM:618603", "UMLS:C5231423" ], "synonyms": [ "NEDHIB", "POLR2A-Related Disorders", "POLR2A-associated neurodevelopmental disability", "POLR2A-related disorder", "neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Neurodevelopmental disorder in which the cause of the disease is a variation in the POLR2A gene; it is characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Other features may include feeding difficulties, dysmorphic features, and visual problems. Brain magnetic resonance imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles." }, "child_count": 0, "reference_id": "MONDO:0032829" }, { "id": 22494, "label": "neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027136", "MEDGEN:1684840", "OMIM:618622", "Orphanet:664923", "UMLS:C5231431" ], "synonyms": [ "NEDMABA", "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032838" }, { "id": 22503, "label": "neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070539", "MEDGEN:1684884", "OMIM:618651", "UMLS:C5231442" ], "synonyms": [ "Halperin-Birk syndrome", "NEDSOSB", "NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032849" }, { "id": 22509, "label": "neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018521", "MEDGEN:1684792", "OMIM:618659", "UMLS:C5231448" ], "synonyms": [ "NEDDFSA", "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032855" }, { "id": 22528, "label": "neurodevelopmental disorder with absent language and variable seizures", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1684803", "OMIM:618707", "UMLS:C5231469" ], "synonyms": [ "Ito-Raymond Syndrome", "NEDALVS", "NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032876" }, { "id": 22529, "label": "neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1684757", "OMIM:618709", "UMLS:C5231470" ], "synonyms": [ "neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures", "NEDBAS", "NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032877" }, { "id": 22530, "label": "neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1684663", "OMIM:618718", "UMLS:C5231471" ], "synonyms": [ "NEDBASH", "NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032878" }, { "id": 22539, "label": "neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1684695", "OMIM:618730", "UMLS:C5231480" ], "synonyms": [ "NEDMCMS", "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY", "Vandervore-Schot Syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032887" }, { "id": 22540, "label": "neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1684772", "OMIM:618731", "UMLS:C5231481" ], "synonyms": [ "NEDBAVC", "NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032888" }, { "id": 22541, "label": "Poirier-Bienvenu neurodevelopmental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027366", "MEDGEN:1684718", "OMIM:618732", "Orphanet:689397", "UMLS:C5231482" ], "synonyms": [ "POBINDS", "POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032889" }, { "id": 22546, "label": "neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1717952", "OMIM:618741", "UMLS:C5394027" ], "synonyms": [ "NEDESBA", "NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032894" }, { "id": 22552, "label": "neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1684874", "OMIM:618760", "UMLS:C5231491" ], "synonyms": [ "NEDHAHM", "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032900" }, { "id": 22573, "label": "neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1716098", "OMIM:618797", "UMLS:C5394091" ], "synonyms": [ "NEDHRIT", "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032921" }, { "id": 22593, "label": "neurodevelopmental disorder with microcephaly and dysmorphic facies", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027139", "MEDGEN:1719418", "OMIM:618828", "Orphanet:662179", "UMLS:C5394218" ], "synonyms": [ "nabais sa-de vries syndrome, type 1", "NEDMIDF", "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND DYSMORPHIC FACIES" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032942" }, { "id": 22594, "label": "neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027140", "MEDGEN:1714169", "OMIM:618829", "Orphanet:662175", "UMLS:C5394221" ], "synonyms": [ "nabais sa-de vries syndrome, type 2", "NEDMACE", "NEURODEVELOPMENTAL DISORDER WITH RELATIVE MACROCEPHALY AND WITH OR WITHOUT CARDIAC OR ENDOCRINE ANOMALIES" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0032943" }, { "id": 22688, "label": "neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018528", "MEDGEN:1776912", "OMIM:619005", "UMLS:C5436585" ], "synonyms": [ "neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia", "NEDDISH", "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033562" }, { "id": 22696, "label": "neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 16798, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010447", "MEDGEN:1736667", "MESH:C567853", "OMIM:603513", "OMIM:619026", "Orphanet:641353", "UMLS:C5436628" ], "synonyms": [ "NEDSWMA", "cerebral palsy, spastic quadriplegic, 1", "cerebral palsy, spastic quadriplegic, type 1", "infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome", "CPSQ1", "cerebral palsy spastic quadriplegic" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033613" }, { "id": 22704, "label": "neurodevelopmental disorder with speech impairment and dysmorphic facies", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070417", "GARD:0018530", "MEDGEN:1758434", "OMIM:619056", "UMLS:C5436699" ], "synonyms": [ "NEDSID" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033630" }, { "id": 22713, "label": "neurodevelopmental disorder with alopecia and brain abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226, 24863 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017987", "MEDGEN:1775930", "OMIM:619075", "Orphanet:544488", "UMLS:C5436741" ], "synonyms": [ "Bachmann-Bupp syndrome", "NEDABA", "global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033642" }, { "id": 22727, "label": "neurodevelopmental disorder with seizures and brain atrophy", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018531", "MEDGEN:1748227", "OMIM:619072", "UMLS:C5436732" ], "synonyms": [ "NEDSEBA" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033658" }, { "id": 22728, "label": "neurodevelopmental disorder with microcephaly, seizures, and brain atrophy", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018532", "MEDGEN:1755716", "OMIM:619076", "UMLS:C5436747" ], "synonyms": [ "NEDMISB" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0033662" }, { "id": 22731, "label": "Delpire-McNeill syndrome", "isLeaf": true, "isRoot": false, "parents": [ 2903, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018533", "MEDGEN:1725056", "OMIM:619083", "Orphanet:633024", "UMLS:C5436771" ], "synonyms": [ "DELMNES", "SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any neurodevelopmental disorder in which the cause of the disease is a mutation in the SLC12A2 gene. It is characterized by global developmental delay, mild to moderate intellectual disability, delayed, poor or absent speech, hypotonia with delayed or absent walking, bilateral sensorineural deafness, and autistic features. Variable features may include ventricular septal defect, tracheoesophageal fistula, hip dislocation, swallowing difficulties (that may require tube feeding), brain anomalies (including cortical dysplasia and agenesis of the corpus callosum) and spasticity." }, "child_count": 0, "reference_id": "MONDO:0033667" }, { "id": 23310, "label": "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination", "isLeaf": true, "isRoot": false, "parents": [ 16437, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017930", "MEDGEN:1377894", "OMIM:617393", "Orphanet:500545", "UMLS:C4479333" ], "synonyms": [ "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination", "NECFM", "severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017})." }, "child_count": 0, "reference_id": "MONDO:0044306" }, { "id": 23329, "label": "developmental delay and seizures with or without movement abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226, 26519 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080473", "GARD:0016261", "MEDGEN:1641343", "OMIM:617836", "UMLS:C4693376" ], "synonyms": [ "developmental delay and seizures with or without movement abnormalities", "DEDSM" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017})." }, "child_count": 0, "reference_id": "MONDO:0044326" }, { "id": 23568, "label": "Stankiewicz-Isidor syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027062", "MEDGEN:1375936", "OMIM:617516", "UMLS:C4479599" ], "synonyms": [ "Stankiewicz-Isidor syndrome", "STISS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems." }, "child_count": 0, "reference_id": "MONDO:0054591" }, { "id": 23660, "label": "neurodevelopmental disorder with midbrain and hindbrain malformations", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080312", "MEDGEN:1385580", "OMIM:617523", "UMLS:C4479613" ], "synonyms": [ "NEDMHM", "neurodevelopmental disorder with midbrain and hindbrain malformations" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0056797" }, { "id": 23682, "label": "neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017985", "MEDGEN:1380860", "OMIM:617481", "Orphanet:544469", "UMLS:C4479566" ], "synonyms": [ "neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies", "NMIHBA" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum." }, "child_count": 0, "reference_id": "MONDO:0060490" }, { "id": 23683, "label": "neurodevelopmental disorder with involuntary movements", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112276", "GARD:0016232", "GARD:0022369", "ICD10CM:F84.8", "MEDGEN:1374697", "MEDGEN:1830103", "OMIM:617493", "Orphanet:592564", "UMLS:C4479569", "UMLS:C5680303" ], "synonyms": [ "GNAO1-related developmental delay-seizures-movement disorder spectrum", "GNAO1-related spectrum", "neurodevelopmental disorder with involuntary movements", "NEDIM" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060491" }, { "id": 23684, "label": "neurodevelopmental disorder with hypotonia, neuropathy, and deafness", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027987", "MEDGEN:1382171", "OMIM:617519", "UMLS:C4479603" ], "synonyms": [ "neurodevelopmental disorder with hypotonia, neuropathy, and deafness", "NEDHND", "myopathy, Congenital, with neuropathy and Deafness" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060496" }, { "id": 23685, "label": "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16087, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017960", "MEDGEN:1380260", "OMIM:617527", "Orphanet:521426", "UMLS:C4479631" ], "synonyms": [ "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies", "NDMSBA" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060502" }, { "id": 23697, "label": "encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 23939, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027988", "MEDGEN:1624694", "OMIM:617668", "Orphanet:447795", "UMLS:C4540052" ], "synonyms": [ "encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities", "NELABA", "lipoyltransferase 2 deficiency" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060562" }, { "id": 23700, "label": "neurodevelopmental disorder with microcephaly, ataxia, and seizures", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022576", "MEDGEN:1613354", "OMIM:617709", "UMLS:C4540188" ], "synonyms": [ "neurodevelopmental disorder with microcephaly, ataxia, and seizures", "NEDMAS" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060577" }, { "id": 23701, "label": "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018012", "MEDGEN:1619876", "OMIM:617710", "Orphanet:572798", "UMLS:C4540192" ], "synonyms": [ "WARS2 deficiency", "WARS2-related disorder", "mitochondrial tryptophanyl-tRNA synthetase deficiency", "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures", "NEMMLAS" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060578" }, { "id": 23708, "label": "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070514", "GARD:0018513", "MEDGEN:1627464", "OMIM:617755", "Orphanet:686482", "UMLS:C4540327" ], "synonyms": [ "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies", "NEDDFL" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060596" }, { "id": 23710, "label": "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0009644", "MEDGEN:1615361", "OMIM:617802", "UMLS:C4540493" ], "synonyms": [ "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy", "NDMSCA" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060621" }, { "id": 23711, "label": "neurodevelopmental disorder with severe motor impairment and absent language", "isLeaf": true, "isRoot": false, "parents": [ 23791, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0013608", "MEDGEN:1622162", "OMIM:617804", "Orphanet:647788", "UMLS:C4540496" ], "synonyms": [ "DHX30-related complex neurodevelopmental disorder", "neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome", "neurodevelopmental disorder with severe motor impairment and absent language", "NEDMIAL" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A complex neurodevelopmental disorder caused by variation in DHX30. Individuals with variants in DHX30 have been found to have variable presentations including intellectual disability, delayed or absent speech development, delayed motor development, hypotonia, feeding difficulties, and ataxic gait or the inability to walk. Other phenotypic features commonly reported include sleep disorders, autistic features, seizures, and joint hypermobility" }, "child_count": 0, "reference_id": "MONDO:0060622" }, { "id": 23712, "label": "neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1621102", "OMIM:617807", "UMLS:C4540498" ], "synonyms": [ "NDAGSCW", "neurodevelopmental disorder with ataxic GAIT, absent speech, and decreased cortical WHITE matter" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060624" }, { "id": 23716, "label": "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060934", "MEDGEN:1637443", "OMIM:617862", "UMLS:C4693390" ], "synonyms": [ "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy", "NEDMEBA" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060640" }, { "id": 23717, "label": "neurodevelopmental disorder with or without seizures and gait abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1645968", "OMIM:617864", "UMLS:C4693391" ], "synonyms": [ "neurodevelopmental disorder with or without seizures and gait abnormalities", "NEDSGA" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060641" }, { "id": 23718, "label": "neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1647077", "OMIM:617865", "UMLS:C4693405" ], "synonyms": [ "neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features", "NEDMAGA" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060642" }, { "id": 23720, "label": "neurodevelopmental disorder with poor language and loss of hand skills", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1637031", "OMIM:617903", "UMLS:C4693546" ], "synonyms": [ "neurodevelopmental disorder with poor language and loss of hand skills", "NDPLHS" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060659" }, { "id": 23723, "label": "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081263", "MEDGEN:1634867", "OMIM:617913", "UMLS:C4693567" ], "synonyms": [ "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities", "NEDMCR" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060664" }, { "id": 23731, "label": "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027990", "MEDGEN:1633724", "OMIM:617977", "UMLS:C4693816" ], "synonyms": [ "neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures", "Elhattab-Alkuraya syndrome", "NEDSBAS" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060704" }, { "id": 23743, "label": "neurodevelopmental disorder with spasticity and poor growth", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070421", "MEDGEN:1648309", "OMIM:618076", "UMLS:C4748081" ], "synonyms": [ "neurodevelopmental disorder with spasticity and poor growth", "NEDSG" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060752" }, { "id": 23745, "label": "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081327", "GARD:0022396", "MEDGEN:1648345", "OMIM:618088", "Orphanet:597623", "UMLS:C4748127" ], "synonyms": [ "IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome", "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures", "NEDAMSS" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060759" }, { "id": 23747, "label": "neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1648487", "OMIM:618090", "UMLS:C4748137" ], "synonyms": [ "neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum", "NEDEHCC" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0060761" }, { "id": 23793, "label": "FOXG1 disorder", "isLeaf": true, "isRoot": false, "parents": [ 3009, 4427, 17975, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070657", "GARD:0026022", "ICD10CM:F84.8", "MEDGEN:462055", "NCIT:C176903", "OMIM:613454", "Orphanet:561854", "Orphanet:598164", "UMLS:C3150705" ], "synonyms": [ "FOXG1 disorder", "FOXG1 inherited genetic disease", "FOXG1 syndrome", "FOXG1 syndrome due to intragenic alteration", "FOXG1-related epileptic-dyskinetic encephalopathy", "Rett syndrome, congenital variant", "inherited genetic disease caused by mutation in FOXG1" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A monogenic disease that has material basis in mutation in the FOXG1 gene." }, "child_count": 0, "reference_id": "MONDO:0100040" }, { "id": 23814, "label": "genetic developmental and epileptic encephalopathy", "isLeaf": false, "isRoot": false, "parents": [ 24226, 24340 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112202", "GARD:0009255", "ICD9:345.10", "NANDO:1200593", "NCIT:C122814", "OMIMPS:308350" ], "synonyms": [ "developmental and epileptic encephalopathy", "hereditary developmental and epileptic encephalopathy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity." }, "child_count": 210, "reference_id": "MONDO:0100062" }, { "id": 23890, "label": "X-linked complex neurodevelopmental disorder", "isLeaf": false, "isRoot": false, "parents": [ 2902, 23791, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027063" ], "synonyms": [ "X-linked complex neurodevelopmental disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy." }, "child_count": 6, "reference_id": "MONDO:0100148" }, { "id": 23908, "label": "PPP2R1A-related intellectual disability", "isLeaf": true, "isRoot": false, "parents": [ 3324, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027993" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any intellectual disability in which the cause of the disease is a mutation in the PPP2R1A gene." }, "child_count": 0, "reference_id": "MONDO:0100166" }, { "id": 23914, "label": "intellectual disability, autosomal dominant", "isLeaf": false, "isRoot": false, "parents": [ 2903, 3324, 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIMPS:156200" ], "synonyms": [ "mental retardation, autosomal dominant", "autosomal dominant intellectual disability" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 87, "reference_id": "MONDO:0100172" }, { "id": 23992, "label": "CACNA1A-related complex neurodevelopmental disorder", "isLeaf": false, "isRoot": false, "parents": [ 24226, 24241 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027064" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines." }, "child_count": 8, "reference_id": "MONDO:0100254" }, { "id": 24021, "label": "X-linked intellectual disability", "isLeaf": false, "isRoot": false, "parents": [ 2902, 3324, 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:211749", "UMLS:C1136249" ], "synonyms": [ "X-linked intellectual disability" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations." }, "child_count": 6, "reference_id": "MONDO:0100284" }, { "id": 24036, "label": "PAX5-related B lymphopenia and autism spectrum disorder", "isLeaf": true, "isRoot": false, "parents": [ 4332, 6961, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026131" ], "synonyms": [ "hypogammaglobulinemia and autism spectrum disorder" ], "categories": [ { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "PAX5 deficiency causing neurodevelopmental abnormalities including autism spectrum disorder in addition to hypogammaglobulinemia due to early B cell developmental block and impaired immune responses." }, "child_count": 0, "reference_id": "MONDO:0100299" }, { "id": 24076, "label": "neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 7611, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018534", "MEDGEN:1731507", "OMIM:619091", "UMLS:C5436783" ], "synonyms": [ "NEDMILG, AR", "neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems." }, "child_count": 0, "reference_id": "MONDO:0100348" }, { "id": 24211, "label": "KCNH1 associated disorder", "isLeaf": false, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027274" ], "synonyms": [ "KCNH1 related disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently." }, "child_count": 2, "reference_id": "MONDO:0100485" }, { "id": 24276, "label": "AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss", "isLeaf": true, "isRoot": false, "parents": [ 23791, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027068" ], "synonyms": [ "AFG2B-related complex neurodevelopmental disorder with motor features and hearing loss", "SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder related to biallelic variants in AFG2B and characterized by a spectrum of intellectual disability, hearing loss, and motor features including spasticity, dystonia, and/or hypotonia. Other phenotypic features commonly reported with the neurodevelopmental presentation include spasticity, focal or generalized epilepsy, and microcephaly." }, "child_count": 0, "reference_id": "MONDO:0100551" }, { "id": 24319, "label": "intellectual disability, autosomal recessive", "isLeaf": false, "isRoot": false, "parents": [ 3324, 7611, 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A broad category of disorders characterized by an impairment to the intelligence an individual possesses, caused by an autosomal recessive genetic disorder." }, "child_count": 9, "reference_id": "MONDO:0100597" }, { "id": 24325, "label": "FAT4-related neurodevelopmental disorder", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any neurodevelopmental disorder, frequently presenting with lymphatic dysplasia, craniofacial and limb anomalies, and secondary lymphopenia from altered immune cell trafficking, in which the cause of the disease is a variation in the FAT4 gene." }, "child_count": 0, "reference_id": "MONDO:0100603" }, { "id": 24345, "label": "SOX11-related complex neurodevelopmental disorder with or without congenital anomalies", "isLeaf": true, "isRoot": false, "parents": [ 24191, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028004" ], "synonyms": [ "intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant disorder caused by pathogenic variation in SOX11 characterized by developmental delay, impaired intellectual development and microcephaly. Affected individuals may also have oculomotor apraxia, ocular malformations including coloboma, lens abnormalities and microphthalmia, and hypogonadotropic hypogonadism. Some patients may have finger clinodactyly and hypoplastic distal phalanges with nail hypoplasia, especially of the fifth digits. Individuals with variants in SOX11 have a \"unique peripheral blood DNA methylation signature as a diagnostic biomarker and phenotypic clustering analysis that distinguishes SOX11 syndrome from BAFopathies." }, "child_count": 0, "reference_id": "MONDO:0100626" }, { "id": 24511, "label": "microcephaly with lissencephaly and/or hydranencephaly", "isLeaf": false, "isRoot": false, "parents": [ 3394, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026362" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A brain disorder caused by biallelic variants in NDE1 that is characterized by extreme microcephaly (typically head circumference of more than 10 standard deviations (SD) below the mean), profound motor and intellectual disability, spasticity, and incomplete cerebral formation. Radiologic studies demonstrate overt microcephaly with cortical dysgenesis ranging from simplification to pachygyria/lissencephaly to hydranencephaly. Agenesis of the corpus callosum as well as hypoplasia of the brainstem and cerebellum are typically present." }, "child_count": 4, "reference_id": "MONDO:0700116" }, { "id": 24676, "label": "MYH10-related neurodevelopmental disorder with congenital anomalies", "isLeaf": true, "isRoot": false, "parents": [ 2903, 24191, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027145" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An autosomal dominant complex neurodevelopmental disorder in which the cause of the disease is a mutation in the MYH10 gene." }, "child_count": 0, "reference_id": "MONDO:0700281" }, { "id": 24727, "label": "CNOT9-related developmental disorder with seizures", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by variation in the CNOT9 gene. This disorder is characterised by moderate-to-severe intellectual disability, delayed or absent speech development, delayed motor development. Most patients present seizures, muscular hypotonia, facial dysmorphism, and behavioral abnormalities." }, "child_count": 0, "reference_id": "MONDO:0700353" }, { "id": 24728, "label": "HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24226, 25027 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028026" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A complex malformation syndrome caused by variation in the HMGB1 gene. This disorder is characterised by brachydactyly, brachyphalangy of fingers, tibia aplasia or hypoplasia, polydactyly, and contractures of large joints. Patients also present microcephaly, malformed ears, and blepharophimosis. Most patients present developmental delay, hearing impairment, and genitourinary anomalies." }, "child_count": 0, "reference_id": "MONDO:0700354" }, { "id": 24729, "label": "ATXN7L3-related developmental delay, hypotonia and facial dysmorphism", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by variation in the ATXN7L3 gene. This disorder is characterised by global motor and language developmental delay, hypotonia, and distinct craniofacial features. Other phenotypes observed less frequently include feeding difficulties, seizures, brain MRI abnormalities, and structural cardiac abnormalities" }, "child_count": 0, "reference_id": "MONDO:0700355" }, { "id": 24730, "label": "DIP2C-related developmental disorder with speech delay", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by variation in the DIP2C gene. This disorder is characterised by developmental delay primarily affect expressive language and speech articulation. Other variable and non-specific phenotypic features include behavioural abnormalities, variable facial anomalies, hypotonia, and structural cardiac anomalies." }, "child_count": 0, "reference_id": "MONDO:0700356" }, { "id": 24731, "label": "EPB41L3-related developmental disorder with delayed myelination and seizures", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by variation in the EPB41L3 gene. This disorder is characterised by global developmental delay, mild to moderate intellectual disability, early-onset seizures, and delayed myelination. Additional brain MRI abnormalities include thin corpus callosum, mild cerebellar atrophy, hyperintensities in the posterior limb of internal capsule and pyramidal tract. Other phenotypic features commonly reported include dystonia, strabismus, spasticity, tremors, and autistic features." }, "child_count": 0, "reference_id": "MONDO:0700357" }, { "id": 24732, "label": "GABRA4-related neurodevelopmental disorder with seizures", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by variation in the GABRA4 gene. This disorder is characterised by developmental delay, epileptiform EEG abnormalities, and autism spectrum disorder, and/or attention deficit hyperactivity disorder. Other phenotypes observed less frequently include seizures, brain MRI abnormalities, and intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0700358" }, { "id": 24733, "label": "GABRD-related neurodevelopmental disorder with epilepsy", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by variation in the GABRD gene. This disorder is characterised by developmental delay, generalized epilepsy with atypical absences and generalized myoclonic and/or bilateral tonic-clonic seizures, intellectual disability, and behavioural abnormalities." }, "child_count": 0, "reference_id": "MONDO:0700359" }, { "id": 24734, "label": "KCNK3-related developmental delay with sleep apnea", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by variation in the KCNK3 gene. This disorder is characterised by global developmental delay, central and/or obstructive sleep apnea. hypotonia, and feeding difficulties. Most patients also present structural malformations, including microcephaly, arthrogryposis/flexion contractures, scoliosis, cleft palate and bilateral talipes, with some facial dysmorphology, and ambiguous genitalia in male probands." }, "child_count": 0, "reference_id": "MONDO:0700360" }, { "id": 24735, "label": "RFX3-related neurodevelopmental disorder with autism and other behavioural abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by variation in the RFX3 gene. This disorder is characterised by global developmental delay, intellectual disability, and behavioural abnormalities. Most patients present autism spectrum disorder and/or attention deficit hyperactivity disorder. Other phenotypes observed less frequently include sleep difficulties, micro or macrocephaly, non-specific and non-recurrent dysmorphisms, and brain MRI abnormalities." }, "child_count": 0, "reference_id": "MONDO:0700361" }, { "id": 24736, "label": "RFX4-related neurodevelopmental disorder with autism and other behavioural abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by variation in the RFX4 gene. This disorder is characterised by global developmental delay and/or intellectual disability, and behavioural abnormalities including documented autism spectrum disorder." }, "child_count": 0, "reference_id": "MONDO:0700362" }, { "id": 24737, "label": "KDM2B-related neurodevelopmental disorder", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by variation in the KDM2B gene. This disorder is characterised by speech delay, developmental delay, learning difficulties, and/or intellectual disability. Patients often present behavioral abnormalities including including autism and attention deficit hyperactivity disorder. Other phenotypic features commonly reported include heart defects, unilateral kidney agenesis, ophthalmological anomalies, broad nasal tip, large ear lobes, and exaggerated Cupid’s bow." }, "child_count": 0, "reference_id": "MONDO:0700363" }, { "id": 24738, "label": "TRA2B-related neurodevelopmental disorder", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by variation in the TRA2B gene. This disorder is characterised by intellectual disability and/or developmental delay, with delayed or absent speech and delayed motor development. Most patients present axial or global hypotonia in the neonatal to infancy period, and brain MRI abnormalities. Other phenotypic features commonly reported include infantile spasms, microcephaly, variable behavioral abnormalities, feeding difficulties, and short stature." }, "child_count": 0, "reference_id": "MONDO:0700364" }, { "id": 24739, "label": "WDR5-related neurodevelopmental disorder", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by variation in the WDR5 gene. This disorder is characterised by speech and language delay, motor development delay and/or intellectual disability. Other phenotypic features commonly reported include hypotonia, epilepsy, and behavioural abnormalities." }, "child_count": 0, "reference_id": "MONDO:0700365" }, { "id": 24740, "label": "ARF3-related neurodevelopmental disorder", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by variation in the ARF3 gene. This disorder is characterised by intellectual disability, delayed or absent speech, motor development delay, and brain MRI abnormalitites. Other phenotypes observed less frequently include seizures, hypotonia, acquired microcephaly, dysmorphic features, and cardiac abnormalities." }, "child_count": 0, "reference_id": "MONDO:0700366" }, { "id": 24741, "label": "CBX1-related neurodevelopmental disorder", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by variation in the CBX1 gene. This disorder is characterised by global motor and language developmental delay, intellectual disability, hypotonia, autism spectrum disorder, and variable dysmorphic features." }, "child_count": 0, "reference_id": "MONDO:0700367" }, { "id": 24742, "label": "DDX17-related neurodevelopmental disorder", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by variation in the DDX17 gene. This disorder is characterised by global developmental, motor, language and speech delay, and intellectual disability. Other phenotypic features commonly reported include hypotonia, dysmorphic facial features, behavioural abnormalities, mainly attention deficit hyperactivity disorder, and brain MRI abnormalities." }, "child_count": 0, "reference_id": "MONDO:0700368" }, { "id": 24743, "label": "FEZF2-related neurodevelopmental disorder", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by variation in the FEZF2 gene. This disorder is characterised by developmental delay, intellectual disability, autism spectrum disorder, and/or attention deficit hyperactivity disorder." }, "child_count": 0, "reference_id": "MONDO:0700369" }, { "id": 24744, "label": "HDAC3-related neurodevelopmental disorder", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by variation in the HDAC3 gene. This disorder is characterised by intellectual disability and neurodevelopmental delay. Phenotypes commonly reported include musculoskeletal abnormalities, abnormalities of the genitourinary system, and brain imaging abnormalities. Other phenotypes observed less frequently include microcephaly, hearing impairments, congenital heart disease, and autistic behavior." }, "child_count": 0, "reference_id": "MONDO:0700370" }, { "id": 25031, "label": "DEAF1-associated neurodevelopmental disorder", "isLeaf": false, "isRoot": false, "parents": [ 23791, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027072" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder characterized predominantly by intellectual disability, speech delay, motor delay, autism, sleep disturbances, and a high pain threshold. This disorder may be inherited in an autosomal dominant or autosomal recessive manner, likely due to mono-allelic variant resulting in altered function and bi-allelic variants resulting in loss of function, respectively." }, "child_count": 4, "reference_id": "MONDO:0800443" }, { "id": 25043, "label": "SYNCRIP-related neurodevelopmental disorder", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any neurodevelopmental disorder in which the cause of the disease is a variation in the SYNCRIP gene. It is characterized by a neurologic and developmental disorder with autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy. Other signs and symptoms may include cerebral structural anomalies such as periventricular nodular heterotopia and widening of subarachnoid spaces." }, "child_count": 0, "reference_id": "MONDO:0800456" }, { "id": 25044, "label": "HNRNPC-related neurodevelopmental disorder", "isLeaf": false, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any neurodevelopmental disorder in which the cause of the disease is a variation in the HNRNPC gene. It is characterized by global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphism. It is caused by heterozygous HNRNPC germline variants." }, "child_count": 1, "reference_id": "MONDO:0800457" }, { "id": 25059, "label": "NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability", "isLeaf": true, "isRoot": false, "parents": [ 3324, 23791, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027073" ], "synonyms": [ "NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by heterozygous variants in NACC1 and characterized by developmental delay, intellectual disability, epilepsy, cataracts, feeding difficulties, and recurring episodes of extreme irritability. Other phenotypes include hypotonia, delayed myelination, microcephaly, stereotypic hand movements, gastrointestinal tract issues, and sleeping problems." }, "child_count": 0, "reference_id": "MONDO:0800475" }, { "id": 25061, "label": "SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth", "isLeaf": false, "isRoot": false, "parents": [ 3324, 24226 ], "type_id": 0, "properties": { "synonyms": [ "SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by heterozygous variants in SETD2 and characterized by intellectual disability or developmental delay, motor delay, speech delay, hypotonia, autism spectrum disorder, attention deficit disorder, and sometimes features such as macrocephaly, overgrowth, and dysmorphic features." }, "child_count": 4, "reference_id": "MONDO:0800477" }, { "id": 25282, "label": "neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1823953", "OMIM:301094", "UMLS:C5774179" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859085" }, { "id": 25284, "label": "Alzahrani-Kuwahara syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018544", "MEDGEN:1782127", "OMIM:619268", "UMLS:C5543274" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859136" }, { "id": 25285, "label": "neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1781371", "OMIM:619286", "UMLS:C5543306" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859137" }, { "id": 25287, "label": "neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018545", "MEDGEN:1786150", "OMIM:619306", "UMLS:C5543332" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859141" }, { "id": 25288, "label": "Hiatt-Neu-Cooper neurodevelopmental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1785187", "OMIM:619311", "UMLS:C5543338" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859142" }, { "id": 25293, "label": "neurodevelopmental disorder with seizures and gingival overgrowth", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070651", "MEDGEN:1784299", "OMIM:619323", "UMLS:C5543395" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859148" }, { "id": 25297, "label": "neurodevelopmental disorder with cerebellar atrophy and motor dysfunction", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070443", "MEDGEN:1781936", "OMIM:619333", "UMLS:C5543427" ], "synonyms": [ "GEMIN5 disorder", "GEMIN5-related neurodevelopmental disorder", "NEDCAM" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by variation in the GEMIN5 gene, characterized by global developmental delay with prominent motor abnormalities, mainly axial hypotonia, gait ataxia, and appendicular spasticity." }, "child_count": 0, "reference_id": "MONDO:0859152" }, { "id": 25306, "label": "neurodevelopmental disorder with infantile epileptic spasms", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1781627", "OMIM:619373", "UMLS:C5543538" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859162" }, { "id": 25309, "label": "neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1780615", "OMIM:619383", "UMLS:C5543591" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859165" }, { "id": 25320, "label": "neurodevelopmental disorder with motor and speech delay and behavioral abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1794164", "OMIM:619470", "UMLS:C5561954" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859176" }, { "id": 25323, "label": "neurodevelopmental disorder with dysmorphic facies and thin corpus callosum", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070469", "MEDGEN:1790413", "OMIM:619480", "UMLS:C5551361" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859179" }, { "id": 25329, "label": "neurodevelopmental disorder with hypotonia and dysmorphic facies", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1794184", "OMIM:619503", "UMLS:C5561974" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859185" }, { "id": 25331, "label": "neurodevelopmental disorder with hypotonia and brain abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1794187", "OMIM:619512", "UMLS:C5561977" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859187" }, { "id": 25344, "label": "neurodevelopmental disorder with impaired language and ataxia and with or without seizures", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1794216", "OMIM:619580", "UMLS:C5562006" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859201" }, { "id": 25349, "label": "neurodevelopmental disorder with hearing loss and spasticity", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027147", "MEDGEN:1794234", "OMIM:619616", "Orphanet:659975", "UMLS:C5562024" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859206" }, { "id": 25350, "label": "neurodevelopmental disorder with hypotonia and gross motor and speech delay", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1794241", "OMIM:619639", "UMLS:C5562031" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859207" }, { "id": 25354, "label": "neurodevelopmental disorder with hyperkinetic movements and dyskinesia", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1794248", "OMIM:619651", "UMLS:C5562038" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859211" }, { "id": 25355, "label": "neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1794250", "OMIM:619653", "UMLS:C5562040" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859212" }, { "id": 25357, "label": "Marbach-Schaaf neurodevelopmental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027395", "MEDGEN:1794260", "OMIM:619680", "Orphanet:692173", "UMLS:C5562050" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859214" }, { "id": 25359, "label": "neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1794262", "OMIM:619685", "UMLS:C5562052" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859216" }, { "id": 25360, "label": "Brunet-Wagner neurodevelopmental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061126", "MEDGEN:1794266", "OMIM:619690", "UMLS:C5562056" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859217" }, { "id": 25363, "label": "Ferguson-Bonni neurodevelopmental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1794275", "OMIM:619699", "UMLS:C5562065" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859220" }, { "id": 25368, "label": "neurodevelopmental disorder with or without variable movement or behavioral abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1802087", "OMIM:619725", "UMLS:C5676908" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859225" }, { "id": 25374, "label": "neurodevelopmental disorder with central hypotonia and dysmorphic facies", "isLeaf": false, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1807420", "OMIM:619797", "UMLS:C5676944" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 1, "reference_id": "MONDO:0859232" }, { "id": 25378, "label": "neurodevelopmental disorder with neuromuscular and skeletal abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1803456", "OMIM:619833", "UMLS:C5676965" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system 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"xrefs": [ "MEDGEN:1808333", "OMIM:619873", "UMLS:C5676984" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859249" }, { "id": 25392, "label": "neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1810140", "OMIM:619876", "UMLS:C5676986" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859250" }, { "id": 25393, "label": "Dentici-Novelli neurodevelopmental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1810366", "OMIM:619877", "UMLS:C5676987" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859251" }, { "id": 25394, "label": "neurodevelopmental disorder 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"reference_id": "MONDO:0968979" }, { "id": 25982, "label": "El Hayek-Chahrour neurodevelopmental disorder", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1863287", "OMIM:620820", "UMLS:C5935620" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0970951" }, { "id": 26019, "label": "neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1857550", "OMIM:620852", "UMLS:C5935629" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0971043" }, { "id": 26079, "label": "neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061190", "GARD:0027315", "MEDGEN:1854654", "OMIM:620851", "Orphanet:686488", "UMLS:C5935628" ], "synonyms": [ "NEDHAFA", "RENU", "RNU4-2-related ReNU syndrome", "RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome", "RNU4-2-related neurodevelopmental syndrome", "ReNU syndrome" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndromic neurodevelopmental disorder in which the cause of the disease is a variation in RNU4-2 gene and is inherited in an autosomal dominant pattern. It is characterized by moderate to severe global developmental delay/intellectual disability, speech anomalies (mostly non-verbal), hypotonia, abnormal brain MRI (reduced white matter volume, hypoplasia of the corpus callosum, ventriculomegaly, and delayed myelination), dysmorphic facial features, short stature, microcephaly, behavioral issues, seizures and feeding difficulties, as well as variable vision, gastrointestinal, endocrine, skeletal, genitourinary, cardiac, and cutaneous anomalies. It has autosomal dominant inheritance." }, "child_count": 0, "reference_id": "MONDO:0971172" }, { "id": 26087, "label": "otofacial neurodevelopmental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1857968", "OMIM:620910", "UMLS:C5935642" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0975705" }, { "id": 26089, "label": "neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1874870", "OMIM:620888", "UMLS:C5975340" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0975745" }, { "id": 26104, "label": "Kariminejad neurodevelopmental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061158", "MEDGEN:1874901", "OMIM:620937", "UMLS:C5975371" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0975795" }, { "id": 26126, "label": "Karayol-Borroto-Haghshenas neurodevelopmental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1875006", "OMIM:620985", "UMLS:C5975476" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0975836" }, { "id": 26147, "label": "neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1875057", "OMIM:621012", "UMLS:C5975527" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0975874" }, { "id": 26149, "label": "neurodevelopmental disorder with variable familial hypercholanemia", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1875058", "OMIM:621016", "UMLS:C5975528" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0975877" }, { "id": 26180, "label": "intellectual developmental disorder with polymicrogyria and seizures", "isLeaf": true, "isRoot": false, "parents": [ 3324, 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1875065", "OMIM:621021", "UMLS:C5975535" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0976124" }, { "id": 26181, "label": "neurodevelopmental disorder with speech or visual impairment and brain hypomyelination", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1875075", "OMIM:621034", "UMLS:C5975545" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0976125" }, { "id": 26182, "label": "neurodevelopmental disorder with microcephaly, absent speech, and hypotonia", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0051030", "MEDGEN:1875108", "OMIM:621060", "UMLS:C5975578" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0976126" }, { "id": 26187, "label": "neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1875126", "OMIM:621068", "UMLS:C5975596" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0976131" }, { "id": 26202, "label": "neurodevelopmental disorder with progressive spasticity and brain abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1876541", "OMIM:621102", "UMLS:C6012700" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0976233" }, { "id": 26207, "label": "neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1876520", "OMIM:621150", "UMLS:C6012708" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0976263" }, { "id": 26208, "label": "neurodevelopmental disorder with white matter abnormalities and gait disturbance", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1876507", "OMIM:621152", "UMLS:C6012709" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0976264" }, { "id": 26209, "label": "neurodevelopmental disorder with poor growth, seizures, and brain abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1876462", "OMIM:621154", "UMLS:C6012710" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0976265" }, { "id": 26214, "label": "neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1876489", "OMIM:621182", "UMLS:C6012716" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0976285" }, { "id": 26227, "label": "neurodevelopmental disorder with ataxia and brain abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1876536", "OMIM:621199", "UMLS:C6012724" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0978300" }, { "id": 26228, "label": "neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1876530", "OMIM:621201", "UMLS:C6012725" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0978301" }, { "id": 26230, "label": "Li-Takada-Miyake syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1876532", "OMIM:621212", "UMLS:C6012727" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0978303" }, { "id": 26254, "label": "neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:1876448", "OMIM:621263", "UMLS:C6012750" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0979245" }, { "id": 26255, "label": "Nil-Deshwar neurodevelopmental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070652", "MEDGEN:1876470", "OMIM:621265", "UMLS:C6012751" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0979246" }, { "id": 26322, "label": "Popov-Chang syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:618428" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0979865" }, { "id": 26328, "label": "neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621328" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0979875" }, { "id": 26336, "label": "Dursun-Ozgul neurodevelopmental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621344" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0979898" }, { "id": 26339, "label": "neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621354" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0980699" }, { "id": 26340, "label": "neurodevelopmental disorder with speech delay and behavioral abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621372" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0980700" }, { "id": 26343, "label": "Harel-Tora neurodevelopmental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621377" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0980703" }, { "id": 26344, "label": "neurocardiorenal malformation syndrome", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621379" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0980704" }, { "id": 26346, "label": "neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621382" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0980706" }, { "id": 26349, "label": "neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621390" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0980709" }, { "id": 26350, "label": "neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621393" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0980710" }, { "id": 26371, "label": "Ramond-Elliott neurodevelopmental syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621421" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0980751" }, { "id": 26380, "label": "microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia", "isLeaf": true, "isRoot": false, "parents": [ 3394, 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621436" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0980935" }, { "id": 26385, "label": "neurodevelopmental disorder with hypotonia, epilepsy, and absent speech", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621455" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0980940" }, { "id": 26386, "label": "neurodevelopmental disorder with speech delay, movement abnormalities, and seizures", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621456" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0980941" }, { "id": 26388, "label": "neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621460" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0980947" }, { "id": 26393, "label": "neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621474" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0980965" }, { "id": 26396, "label": "neurodevelopmental disorder with seizures, hypotonia, and variable spasticity", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621482" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0980968" }, { "id": 26567, "label": "PIP5K1C-related neurodevelopmental disorder", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "synonyms": [ "PIP5K1C-related neurodevelopmental disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any neurodevelopmental disorder in which the cause of the disease is a monoallelic gain-of-function variation in the PIP5K1C gene leading to increased levels of phosphatidylinositol 4,5 bisphosphate. This disorder is characterized by intellectual disability, motor and speech delay, microcephaly, seizures, visual and ocular abnormalities, and craniofacial dysmorphic features." }, "child_count": 0, "reference_id": "MONDO:1010145" }, { "id": 29235, "label": "KCND2-related neurodevelopmental disorder with or without seizures", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by variation in the KCND2 gene. This disorder is characterized by early-onset global developmental delay with impaired motor, speech and cognitive development. Patients often present muscle hypotonia, and less frequently, developmental epileptic encephalopathy, visual impairment and physical dysmorphisms." }, "child_count": 0, "reference_id": "MONDO:1040003" }, { "id": 29237, "label": "PRPF19-related neurodevelopmental disorder", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any neurodevelopmental disorder in which the cause of the disease is a mutation in the PRPF19 gene. This disorder is characterised by developmental, motor and speech delay, and facial dysmorphisms. Most patients present mild to moderate intellectual disability, autism spectrum disorder or autistic features, and hypotonia. Other phenotypes observed less frequently include seizures, and visual and cardiac abnormalities." }, "child_count": 0, "reference_id": "MONDO:1040005" }, { "id": 29238, "label": "CTR9-related neurodevelopmental disorder", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any neurodevelopmental disorder in which the cause of the disease is a variation in the CTR9 gene. This disorder is characterised by varying degrees of intellectual disability, neurodevelopmental delay, hypotonia, fatigability, behavioral abnormalities including autism spectrum disorder, anxiety and aggressive behavior, cardiac anomalies, and mild facial dysmorphism." }, "child_count": 0, "reference_id": "MONDO:1040006" }, { "id": 29240, "label": "CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by variation in the CAMK2D gene. This disorder is characterised by intellectual disability, speech and motor delay, behavioural problems and dilated cardiomyopathy. Patients often present brain structural anomalies and hypotonia, and less frequently, seizures." }, "child_count": 0, "reference_id": "MONDO:1040008" }, { "id": 29245, "label": "PPFIA3-related neurodevelopmental disorder", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621122" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder caused by variation in the PPFIA3 gene. This disorder is characterised by developmental delay and intellectual disability. Most patients present variable additional features, including dysmorphisms, microcephaly or macrocephaly, hypotonia, autism spectrum disorder or autistic features, abnormal electroencephalogram, and epilepsy." }, "child_count": 0, "reference_id": "MONDO:1040014" }, { "id": 29261, "label": "dyneinopathy", "isLeaf": false, "isRoot": false, "parents": [ 2961, 19329, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027115" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A spectrum of diseases related to monoallelic variants in DYNC1H1 and characterized by variable neuromuscular and/or neurodevelopmental presentations. While not absolute, there appear to be genotype-phenotype correlations based on the location of the variant. Patients with variants in the stem domain of DYNC1H1 have been reported with a predominantly neuromuscular presentation, including congenital myopathy, spinal muscular atrophy, Charcot-Marie-Tooth (CMT), and less frequently, intellectual disability and autism. Patients with variants in the motor domain predominantly present with neurodevelopmental presentations including intellectual disability, seizures, malformations of cortical development (abnormal brain MRI findings such as pachygyria, heterotopias, enlarged ventricles, hypoplasia of CC, brain stem, cerebellum), autism, and less frequently, neuromuscular phenotypes." }, "child_count": 6, "reference_id": "MONDO:1040031" }, { "id": 29302, "label": "MYCBP2-related developmental delay with corpus callosum defects", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "synonyms": [ "MDCD", "MYCBP2-related developmental delay with corpus callosum defects" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any neurodevelopmental disorder in which the cause of the disease is a mutation in the MYCBP2 gene. This condition is characterized by variable corpus callosum defects consistent with dysgenesis, and a broad spectrum of neurobehavioural deficits including developmental delay, intellectual disability, epilepsy, and autistic features." }, "child_count": 0, "reference_id": "MONDO:1060117" }, { "id": 29312, "label": "GRIN-related complex neurodevelopmental disorder", "isLeaf": false, "isRoot": false, "parents": [ 23791, 24226 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028156" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A group of neurological and neurodevelopmental disorders caused by pathogenic variants in genes encoding subunits of the N-methyl-D-aspartate (NMDA) receptor, including GRIN1, GRIN2A, GRIN2B, and GRIN2D. These disorders are associated with a spectrum of symptoms such as developmental delay, intellectual disability, epilepsy, movement disorders, speech and language impairment, and neuropsychiatric features. The clinical presentation and severity vary depending on the specific gene and mutation involved." }, "child_count": 8, "reference_id": "MONDO:1060138" }, { "id": 29341, "label": "RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity", "isLeaf": true, "isRoot": false, "parents": [ 24226 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:621302" ], "synonyms": [ "RNU5B-1-related disorder", "NEDSJL", "RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity", "neurodevelopmental disorder with seizures and joint laxity" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A neurodevelopmental disorder in which the cause of the disease is a variation in RNU5B-1 gene and is characterized by global developmental delay, hypotonia, macrocephaly, failure to thrive, abnormality of the eye, seizures, and joint laxity" }, "child_count": 0, "reference_id": "MONDO:1060179" } ], "roots": [ { "id": 24270, "label": "hereditary neurological disease" }, { "id": 24488, "label": "neurodevelopmental disorder" } ] }