Details of Disease

General Information of Disease (ID: DIS41NFU)

• Disease Name: Intellectual disability, autosomal dominant 30
• Synonyms: mental retardation, autosomal dominant 30; autosomal dominant non-syndromic intellectual disability 30; intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in ZMYND11; autosomal dominant intellectual disability 30; mental retardation, autosomal dominant type 30; MRD30; intellectual disability, autosomal dominant 30; ZMYND11 intellectual disability-expressive aphasia-facial dysmorphism syndrome; intellectual disability, autosomal dominant type 30; autosomal dominant mental retardation 30
• Definition: Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DIS3HIWD: Autosomal dominant disease
  DIS41NFU: Intellectual disability, autosomal dominant 30
• Disease Identifiers:
  MONDO ID: MONDO_0014486
  UMLS CUI: C4015167
  OMIM ID: 616083
  MedGen ID: 863604

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
ZMYND11	OT2A1WLT	Strong	Autosomal dominant	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.