Details of Disease

General Information of Disease (ID: DISPQGMN)

• Disease Name: Intellectual disability, autosomal dominant 13
• Synonyms: intellectual disability, autosomal dominant, 13, with neuronal migration defects; autosomal dominant non-syndromic intellectual disability 13; mental retardation, autosomal dominant, 13, with neuronal migration defects; mental retardation, autosomal dominant 13; MRD13; autosomal dominant non-syndromic intellectual disability caused by mutation in DYNC1H1; autosomal dominant mental retardation 13; autosomal dominant intellectual disability 13; intellectual disability, autosomal dominant type 13; DYNC1H1 autosomal dominant non-syndromic intellectual disability; intellectual disability, autosomal dominant 13; mental retardation, autosomal dominant type 13; intellectual disability, autosomal dominant 13, with neuronal migration defects; mental retardation, autosomal dominant 13, with neuronal migration defects
• Definition: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene.
• Disease Hierarchy:
  DIS1I87P: Intellectual disability, autosomal dominant
  DISPQGMN: Intellectual disability, autosomal dominant 13
• Disease Identifiers:
  MONDO ID: MONDO_0013805
  UMLS CUI: C3281202
  OMIM ID: 614563
  MedGen ID: 482832

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
DYNC1H1	OTD1KRKO	Definitive	Autosomal dominant	[1]

References

• [1] Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development. Hum Mutat. 2014 Mar;35(3):298-302. doi: 10.1002/humu.22491. Epub 2014 Jan 3.