cerebrooculofacioskeletal syndrome 2
Findings
No curated finding names cerebrooculofacioskeletal syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012553), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Death in childhood
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.
- Camptodactyly of fingerHPOHP:0100490
- 1 of 1 reported patient
- CataractHPOHP:0000518
- 1 of 1 reported patient
- Convex nasal ridgeHPOHP:0000444
- 2 of 2 reported patients
- Cutaneous photosensitivityHPOHP:0000992
- 1 of 1 reported patient
- Deeply set eyeHPOHP:0000490
- 1 of 1 reported patient
- Developmental cataractHPOHP:0000519
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
Show the remaining 8
- MicrognathiaHPOHP:0000347
- 1 of 1 reported patient
- MicropenisHPOHP:0000054
- 1 of 1 reported patient
- MicrophthalmiaHPOHP:0000568
- 1 of 1 reported patient
- Prominent noseHPOHP:0000448
- 1 of 1 reported patient
- Rocker bottom footHPOHP:0001838
- 1 of 1 reported patient
- Small for gestational ageHPOHP:0001518
- 1 of 1 reported patient
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.
- ERCC2HGNC:3434
- Definitive · G2P · Autosomal recessive · 2017
Where it sits
- A kind of
Other names
4 names
Resolves to: cerebrooculofacioskeletal syndrome 2
- Also called
- cerebrooculofacioskeletal syndrome type 2COFS syndrome caused by mutation in ERCC2COFS2ERCC2 COFS syndrome