Intellectual disability, autosomal dominant 29

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: 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

1 clinical trial for this condition and its sub-types, 0 tagged with Intellectual disability, autosomal dominant 29 itself.