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Up to: Syndromic disease · Complex neurodevelopmental disorder · Autosomal dominant disease · Mendelian neurodevelopmental disorder
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.
This condition has no sub-types.