Intellectual disability, autosomal dominant 29

rare

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.

Identifiers: MONDO:0014482 OMIM:616078
Causal genes: SETBP1
Part of: Autosomal dominant syndromic intellectual disability Complex neurodevelopmental disorder
Also known as: 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 29

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