3MC syndrome 3
MONDO:0009554Mondo
Findings
No curated finding names 3MC syndrome 3 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 COLEC10 gene.
Definition from the Mondo Disease Ontology (MONDO:0009554), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
20 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.
- BlepharophimosisHPOHP:0000581
- 6 of 7 reported patients
- Epicanthus inversusHPOHP:0000537
- 5 of 7 reported patients
- Highly arched eyebrowHPOHP:0002553
- 4 of 7 reported patients
- Cleft palateHPOHP:0000175
- 3 of 7 reported patients
- Cleft upper lipHPOHP:0000204
- 3 of 7 reported patients
- Diastasis rectiHPOHP:0001540
- 3 of 7 reported patients
- Sacral dimpleHPOHP:0000960
Show the remaining 8
- Short statureHPOHP:0004322
- 2 of 7 reported patients
- Auricular pitHPOHP:0030025
- 1 of 7 reported patients
- ClinodactylyHPOHP:0030084
- 1 of 7 reported patients
- Corneal opacityHPOHP:0007957
- 1 of 7 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 7 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 7 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.
- COLEC10HGNC:2220
- Strong · G2P · Autosomal recessive · 2017
Where it sits
- A kind of
Other names
3 names
Resolves to: 3MC syndrome 3
- Also called
- 3MC syndrome caused by mutation in COLEC103MC syndrome type 3COLEC10 3MC syndrome