cerebrooculofacioskeletal syndrome 1
MONDO:0008955Mondo
Findings
No curated finding names cerebrooculofacioskeletal syndrome 1 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 ERCC6 gene.
Definition from the Mondo Disease Ontology (MONDO:0008955), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
32 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.
- Axial hypotoniaHPOHP:0008936
- 3 of 3 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient · Male
- Deeply set eyeHPOHP:0000490
- 3 of 3 reported patients
- Failure to thriveHPOHP:0001508
- 3 of 3 reported patients
- GliosisHPOHP:0002171
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- MicrocephalyHPOHP:0000252
Show the remaining 20
- Delayed eruption of teethHPOHP:0000684
- 2 of 3 reported patients
- Flexion contractureHPOHP:0001371
- 2 of 3 reported patients
- Prominent noseHPOHP:0000448
- 2 of 3 reported patients
- SeizureHPOHP:0001250
- 2 of 3 reported patients
- Basal ganglia calcificationHPOHP:0002135
- 1 of 3 reported patients
- Brain atrophyHPOHP:0012444
- 1 of 3 reported patients
Where it sits
- A kind of
Other names
4 names
Resolves to: cerebrooculofacioskeletal syndrome 1
- Also called
- cerebrooculofacioskeletal syndrome type 1COFS syndrome caused by mutation in ERCC6COFS1ERCC6 COFS syndrome