intellectual disability, autosomal dominant 29
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
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