MED12-related intellectual disability syndrome
Findings
No curated finding names MED12-related intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0100000), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MED12HGNC:11957
- Definitive · ClinGen · X-linked · 2025
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
Other names
2 names
Resolves to: MED12-related intellectual disability syndrome
- Also called
- MED12 X-linked syndromic intellectual disabilityX-linked syndromic intellectual disability caused by mutation in MED12