intellectual disability, autosomal dominant 42
Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in the GNB1 gene. It is characterized by global developmental delay, intellectual disability, hypotonia, structural brain abnormalities, and seizures. Other less common findings include dystonia, visual impairment, behavior problems, growth delay, craniofacial defects, and genitourinary abnormalities in males.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015368
obsolete neuro-ophthalmological disease (obsolete MONDO:0015368)
excluded_subClassOf
MONDO:0015653
monogenic epilepsy
excluded_subClassOf
MONDO:0015802
autosomal dominant non-syndromic intellectual disability
excluded_subClassOf
MONDO:0024252
obsolete global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (obsolete MONDO:0024252)
excluded_subClassOf
MONDO:0100172
intellectual disability, autosomal dominant
is_a
GNB1 autosomal dominant non-syndromic intellectual disability
narrow
GNB1-related disorder
exact
GNB1-related neurodevelopmental disorder
exact
MRD42
exact
autosomal dominant intellectual disability 42
exact
autosomal dominant non-syndromic intellectual disability 42
narrow
autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1
narrow
global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
exact
intellectual developmental disorder, autosomal dominant 42
exact
intellectual disability, autosomal dominant 42
exact
intellectual disability, autosomal dominant type 42
exact
mental retardation, autosomal dominant 42
exact
mental retardation, autosomal dominant type 42
exact
SPBC32H8.07