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Intellectual Disability, Autosomal Dominant 29 (MONDO:0014482)

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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.

Overview

Category

syndromic disease

nervous system disorder

Ontology ID

Internal:15481

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

Mapped terms

DOID:0070059

GARD:0013379

MEDGEN:863578

NORD:1958

OMIM:616078

UMLS:C4015141

Child terms

Unknown children.