intellectual disability, autosomal dominant 42

Rare Disease

MONDO:0014855

Also Known As

GNB1-related disorderGNB1-related neurodevelopmental disorderMRD42autosomal dominant intellectual disability 42autosomal dominant mental retardation 42global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndromeintellectual developmental disorder, autosomal dominant 42intellectual disability, autosomal dominant 42intellectual disability, autosomal dominant type 42mental retardation, autosomal dominant 42mental retardation, autosomal dominant type 42GNB1 autosomal dominant non-syndromic intellectual disabilityautosomal dominant non-syndromic intellectual disability 42autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1

Definition

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.