Details of Disease

General Information of Disease (ID: DISX8R9X)

• Disease Name: MED12-related intellectual disability syndrome
• Synonyms: MED12-related intellectual disability syndrome; X-linked syndromic intellectual disability caused by mutation in MED12; MED12 X-linked syndromic intellectual disability
• Definition: An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity.
• Disease Hierarchy:
  DISG1YOH: X-linked syndromic intellectual disability
  DISX8R9X: MED12-related intellectual disability syndrome

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
MED12	OTQZ4D2X	Definitive	X-linked	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.