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.
MONDO:0015802
autosomal dominant non-syndromic intellectual disability
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0002254
syndromic disease
is_a
MONDO:0100038
complex neurodevelopmental disorder
is_a
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
MRD29
exact
SETBP1 Haploinsufficiency Disorder
exact
SETBP1 disorder
related
SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome
exact
SETBP1 related developmental delay
related
SETBP1-related complex neurodevelopmental disorder
exact
SETBP1-related disorder
related
SETBP1-related intellectual disability
related
autosomal dominant intellectual disability 29
exact
autosomal dominant mental retardation 29
exact
intellectual disability, autosomal dominant type 29
exact
intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1
exact
mental retardation, autosomal dominant 29
related
mental retardation, autosomal dominant type 29
exact