Details of Disease

General Information of Disease (ID: DISFYTEE)

• Disease Name: Intellectual disability, autosomal dominant 20
• Synonyms: mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations; intellectual disability, stereotypic movements, epilepsy, and/or cerebral malformations; chromosome 5Q14.3 deletion syndrome, proximal; autosomal dominant intellectual disability 20; autosomal dominant mental retardation 20; mental retardation, autosomal dominant type 20; intellectual disability, autosomal dominant 20; MEF2C Deficiency; intellectual disability, autosomal dominant type 20; MEF2C autosomal dominant non-syndromic intellectual disability; chromosome 5q14.3 deletion syndrome; autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C; neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language; MRD20; mental retardation, autosomal dominant 20
• Definition: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene.
• Disease Hierarchy:
  DISD6L06: Autosomal dominant non-syndromic intellectual disability
  DISFYTEE: Intellectual disability, autosomal dominant 20
• Disease Identifiers:
  MONDO ID: MONDO_0013266
  UMLS CUI: C3150700
  OMIM ID: 613443
  MedGen ID: 462050

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
MEF2C	OTZGF1Y5	Definitive	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.