Details of Disease

General Information of Disease (ID: DISLT56E)

• Disease Name: Intellectual disability, X-linked 102
• Synonyms: mental retardation, X-linked 102; MRX102; DDX3X-related intellectual disability; intellectual developmental disorder, X-linked, syndrome, Snijders Blok type, X-linked recessive, X-linked dominant; intellectual disability, X-linked 102; mental retardation, X-linked type 102; non-syndromic X-linked intellectual disability caused by mutation in DDX3X; DDX3X non-syndromic X-linked intellectual disability; intellectual disability, X-linked type 102
• Definition: An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.
• Disease Hierarchy:
  DIS71AI3: Non-syndromic X-linked intellectual disability
  DISLT56E: Intellectual disability, X-linked 102
• Disease Identifiers:
  MONDO ID: MONDO_0010497
  UMLS CUI: C5393299
  OMIM ID: 300958
  MedGen ID: 1715418

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
DDX3X	OTDO4TRX	Definitive	X-linked	[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.