Details of Disease

General Information of Disease (ID: DIS14ZZ5)

• Disease Name: Intellectual disability, X-linked 96
• Synonyms: MRX96; mental retardation, X-linked 96; non-syndromic X-linked intellectual disability caused by mutation in SYP; intellectual disability, X-linked 96; SYP non-syndromic X-linked intellectual disability; intellectual developmental disorder, X-linked 96, X-linked recessive; mental retardation, X-linked type 96; intellectual disability, X-linked type 96
• Definition: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene.
• Disease Hierarchy:
  DIS71AI3: Non-syndromic X-linked intellectual disability
  DIS14ZZ5: Intellectual disability, X-linked 96
• Disease Identifiers:
  MONDO ID: MONDO_0010429
  UMLS CUI: C3275408
  OMIM ID: 300802
  MedGen ID: 477039

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DLG3	OTH591WK	Strong	Biomarker	[1]
GDI1	OTYM3928	Strong	Biomarker	[2]
SYP	OTFJKMO4	Definitive	X-linked recessive	[3]

References

• [1] Altered thalamocortical development in the SAP102 knockout model of intellectual disability.Hum Mol Genet. 2016 Sep 15;25(18):4052-4061. doi: 10.1093/hmg/ddw244. Epub 2016 Jul 27.
• [2] Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training.Hum Mol Genet. 2009 Jan 1;18(1):105-17. doi: 10.1093/hmg/ddn321. Epub 2008 Oct 1.
• [3] A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet. 2009 May;41(5):535-43. doi: 10.1038/ng.367. Epub 2009 Apr 19.