/intellectual disability, autosomal dominant 29

intellectual disability, autosomal dominant 29

Rare Disease

MONDO:0014482

Also Known As

MRD29SETBP1 Haploinsufficiency DisorderSETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndromeSETBP1-related complex neurodevelopmental disorderautosomal dominant intellectual disability 29autosomal dominant mental retardation 29intellectual disability, autosomal dominant type 29intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1mental retardation, autosomal dominant type 29SETBP1 disorderSETBP1 related developmental delaySETBP1-related disorderSETBP1-related intellectual disabilitymental retardation, 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.