has characteristic has characteristic has material basis in germline mutation in SETBP1 Autosomal dominant inheritance autosomal dominant disease syndromic disease intellectual disability, autosomal dominant 29 https://github.com/monarch-initiative/mondo/issues/6878 https://github.com/monarch-initiative/mondo/issues/9693 https://www.malacards.org/card/intellectual_developmental_disorder_autosomal_dominant_29 SETBP1-related intellectual disability autosomal dominant intellectual disability 29 intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1 SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome SETBP1-related disorder mental retardation, autosomal dominant 29 OMIM:616078 NORD:1958 MRD29 autosomal dominant mental retardation 29 SETBP1-related complex neurodevelopmental disorder UMLS:C4015141 GARD:0013379 MONDO:0014482 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. SETBP1 disorder DOID:0070059 mental retardation, autosomal dominant type 29 SETBP1 Haploinsufficiency Disorder MEDGEN:863578 intellectual disability, autosomal dominant type 29 SETBP1 related developmental delay autosomal dominant non-syndromic intellectual disability complex neurodevelopmental disorder Mendelian neurodevelopmental disorder