Intellectual disability, autosomal dominant 29
Intellectual disability, autosomal dominant 29
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.
Also known as autosomal dominant intellectual disability 29, autosomal dominant mental retardation 29, intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1, intellectual disability, autosomal dominant type 29, mental retardation, autosomal dominant type 29, MRD29, SETBP1 Haploinsufficiency Disorder, SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome, SETBP1-related complex neurodevelopmental disorder — per MONDO