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Early-Onset Parkinsonism-Intellectual Disability Syndrome (MONDO:0010709)

Open Trait in OLS

A basal ganglia disorder characterized by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

Overview

Category

syndromic disease

nervous system disorder

Ontology ID

Internal:11851

Synonyms

Laxova-Opitz syndrome

Waisman syndrome

Waisman syndrome, X-linked recessive

early-onset parkinsonism-intellectual disability syndrome

BGMR

Laxova Brown hogan syndrome

Parkinsonism, early onset with intellectual disability

Parkinsonism, early onset with mental retardation

Parkinsonism, early-onset, with intellectual disability

Parkinsonism, early-onset, with mental retardation

WAISMAN syndrome

WSMN

Wsn

X-linked recessive basal ganglia disorder with intellectual disability

X-linked recessive basal ganglia disorder with mental retardation

basal ganglia disorder with intellectual disability

basal ganglia disorder with mental retardation

basal ganglion disorder with intellectual disability

basal ganglion disorder with mental retardation

Mapped terms

DOID:0111781

GARD:0003203

MEDGEN:208674

MESH:C537179

OMIM:311510

Orphanet:2379

SCTID:716107009

UMLS:C0796195

icd11.foundation:937544163

Child terms

Unknown children.