3MC syndrome 2
MONDO:0009927Mondo
Findings
No curated finding names 3MC syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene.
Definition from the Mondo Disease Ontology (MONDO:0009927), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
15 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.
- Highly arched eyebrowHPOHP:0002553
- 10 of 10 reported patients
- HypertelorismHPOHP:0000316
- 10 of 10 reported patients
- PtosisHPOHP:0000508
- 10 of 10 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 10 reported patients
- Postnatal growth retardationHPOHP:0008897
- 7 of 10 reported patients
- CraniosynostosisHPOHP:0001363
- 6 of 10 reported patients
- Hearing impairmentHPOHP:0000365
Show the remaining 3
- Radioulnar synostosisHPOHP:0002974
- 4 of 10 reported patients
- Caudal appendageHPOHP:0002825
- 2 of 10 reported patients
- High palateHPOHP:0000218
- 2 of 10 reported patients
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.
- COLEC11HGNC:17213
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: 3MC syndrome 2
- Also called
- 3MC syndrome caused by mutation in COLEC113MC syndrome type 2COLEC11 3MC syndrome