FG syndrome 1
MONDO:0010590Mondo
Findings
No curated finding names FG syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene.
Definition from the Mondo Disease Ontology (MONDO:0010590), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
81 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Broad halluxHPOHP:0010055
- 7 of 7 reported patients
- Broad thumbHPOHP:0011304
- 7 of 7 reported patients
- Frontal upsweep of hairHPOHP:0002236
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- 9 of 9 reported patients
- Microtia, first degreeHPOHP:0011266
- 7 of 7 reported patients
- Simple earHPOHP:0020206
- 7 of 7 reported patients
- HypotoniaHPOHP:0001252
- 9 of 10 reported patients
- Prominent foreheadHPOHP:0011220
- 9 of 10 reported patients
- Anal atresiaHPOHP:0002023
- 4 of 5 reported patients
- Occasional (5% to 29% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- 4 of 5 reported patients
- Frequent (30% to 79% of cases)
- Relative macrocephalyHPOHP:0004482
- 7 of 9 reported patients
- HypertelorismHPOHP:0000316
- 4 of 6 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 69
- ConstipationHPOHP:0002019
- 5 of 8 reported patients
- Occasional (5% to 29% of cases)
- Abnormal cerebellum morphologyHPOHP:0001317
- Frequent (30% to 79% of cases)
- Abnormal large intestine morphologyHPOHP:0002250
- Frequent (30% to 79% of cases)
- Abnormal sternum morphologyHPOHP:0000766
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Frequent (30% to 79% of cases)
- Atrial septal defectHPOHP:0001631
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 · G2P · X-linked · 2018
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
4 names
Resolves to: FG syndrome 1
- Also called
- FG syndrome caused by mutation in MED12FG Syndrome Type 1MED12 FG syndromeOpitz-Kaveggia syndrome, X-linked recessive