cerebrooculofacioskeletal syndrome 3
MONDO:0014696Mondo
Findings
No curated finding names cerebrooculofacioskeletal syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Second trimester onset
HPO, annotations 2026-09-02
Features
11 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.
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 5 of 5 reported patients
- Decreased fetal movementHPOHP:0001558
- 5 of 5 reported patients
- MicrocephalyHPOHP:0000252
- 5 of 5 reported patients
- Low-set earsHPOHP:0000369
- 3 of 5 reported patients
- MicrognathiaHPOHP:0000347
- 3 of 5 reported patients
- Rocker bottom footHPOHP:0001838
- 3 of 5 reported patients
- Talipes equinovarusHPOHP:0001762
- 2 of 5 reported patients
- VentriculomegalyHPOHP:0002119
- 2 of 5 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 5 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 5 reported patients
- Posterior fossa cystHPOHP:0007291
- 1 of 5 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.
- ERCC5HGNC:3437
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
2 names
Resolves to: cerebrooculofacioskeletal syndrome 3
- Also called
- cerebrooculofacioskeletal syndrome type 3COFS3