cerebrooculofacioskeletal syndrome 4
Findings
No curated finding names cerebrooculofacioskeletal syndrome 4 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 ERCC1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012554), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Death in childhood
HPO, annotations 2026-09-02
Features
38 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.
- Adducted thumbHPOHP:0001181
- 1 of 1 reported patient
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 1 of 1 reported patient
- Bilateral microphthalmosHPOHP:0007633
- 1 of 1 reported patient
- BlepharophimosisHPOHP:0000581
- 1 of 1 reported patient
- Brisk reflexesHPOHP:0001348
- 1 of 1 reported patient
- Camptodactyly of fingerHPOHP:0100490
- 1 of 1 reported patient
- Cerebellar hypoplasiaHPOHP:0001321
Show the remaining 26
- Flared metaphysisHPOHP:0003015
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Hip dislocationHPOHP:0002827
- 1 of 1 reported patient · Congenital onset
- HyperreflexiaHPOHP:0001347
- 1 of 1 reported patient
- HypertoniaHPOHP:0001276
- 1 of 1 reported patient
- Intrauterine growth retardationHPOHP:0001511
- 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.
- ERCC1HGNC:3433
- Definitive · G2P · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2019
Where it sits
- A kind of
Other names
4 names
Resolves to: cerebrooculofacioskeletal syndrome 4
- Also called
- cerebrooculofacioskeletal syndrome type 4COFS syndrome caused by mutation in ERCC1COFS4ERCC1 COFS syndrome