severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3.
MONDO:0015802
autosomal dominant non-syndromic intellectual disability
excluded_subClassOf
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0100601
autosomal dominant syndromic intellectual disability
is_a
GAND syndrome
exact
GATAD2B-associated neurodevelopmental disorder
related
MRD18
exact
autosomal dominant intellectual disability 18
exact
intellectual disability, autosomal dominant 18
related
intellectual disability, autosomal dominant type 18
exact
mental retardation, autosomal dominant 18
related
mental retardation, autosomal dominant type 18
exact
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
exact