Details of Disease

General Information of Disease (ID: DISDUGQ8)

• Disease Name: Intellectual disability, autosomal dominant 42
• Synonyms: autosomal dominant non-syndromic intellectual disability 42; Gnb1 autosomal dominant non-syndromic intellectual disability; autosomal dominant mental retardation 42; GNB1 autosomal dominant non-syndromic intellectual disability; autosomal dominant non-syndromic intellectual disability caused by mutation in Gnb1; mental retardation, autosomal dominant 42; autosomal dominant intellectual disability 42; intellectual disability, autosomal dominant 42; GNB1-related neurodevelopmental disorder; mental retardation, autosomal dominant type 42; MRD42; intellectual developmental disorder, autosomal dominant 42; intellectual disability, autosomal dominant type 42; autosomal 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.
• Disease Hierarchy:
  DIS1I87P: Intellectual disability, autosomal dominant
  DISDUGQ8: Intellectual disability, autosomal dominant 42
• Disease Identifiers:
  MONDO ID: MONDO_0014855
  UMLS CUI: C4310774
  OMIM ID: 616973
  MedGen ID: 934741

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GNB1	OTLL7L74	Definitive	Autosomal dominant	[1]

References

• [1] Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. Am J Hum Genet. 2016 May 5;98(5):1001-1010. doi: 10.1016/j.ajhg.2016.03.011. Epub 2016 Apr 21.