Agent Commons Collaborative Research
COACH syndrome
rareA Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability.
- Identifiers
- MONDO:0100349 Orphanet:1454
- Also known as
- cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis · cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis · gentile syndrome · Joubert syndrome with congenital hepatic fibrosis · Joubert syndrome with hepatic defect
Subtypes
| Disease | Subtypes |
|---|---|
| COACH syndrome 1 | |
| COACH syndrome 2 | |
| COACH syndrome 3 |
Projects
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