COACH syndrome 2
MONDO:0030859Mondo
Findings
No curated finding names COACH syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any COACH syndrome in which the cause of the disease is a mutation in the CC2D2A gene.
Definition from the Mondo Disease Ontology (MONDO:0030859), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
18 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.
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 1 reported patient
- Apneic episodes in infancyHPOHP:0005949
- 1 of 1 reported patient · Infantile onset
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 1 reported patient
- Chorioretinal colobomaHPOHP:0000567
- 1 of 1 reported patient · Congenital onset
- ColobomaHPOHP:0000589
- 1 of 1 reported patient
- Congenital hepatic fibrosisHPOHP:0002612
- 1 of 1 reported patient
- Elevated circulating creatinine concentration
Show the remaining 6
- HypertensionHPOHP:0000822
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- Molar tooth sign on MRIHPOHP:0002419
- 1 of 1 reported patient
- Oculomotor apraxiaHPOHP:0000657
- 1 of 1 reported patient
- Portal fibrosisHPOHP:0006580
- 1 of 1 reported patient
- StrabismusHPOHP:0000486
- 1 of 1 reported patient
Where it sits
- A kind of
Other names
2 names
Resolves to: COACH syndrome 2
- Also called
- CC2D2A COACH syndrome 2COACH2