COACH syndrome
MONDO:0100349Mondo
Findings
No curated finding names COACH syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability.
Definition from the Mondo Disease Ontology (MONDO:0100349), read 2026-09-29. CC BY 4.0.
Features
48 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.
- Abnormal pattern of respirationHPOHP:0002793
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the cerebellumHPOHP:0007360
- Very frequent (80% to 99% of cases)
- ApneaHPOHP:0002104
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Cerebellar vermis hypoplasiaHPOHP:0001320
- Very frequent (80% to 99% of cases)
- Congenital hepatic fibrosisHPOHP:0002612
- Very frequent (80% to 99% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Intrahepatic biliary atresiaHPOHP:0005248
- Very frequent (80% to 99% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Very frequent (80% to 99% of cases)
- Oculomotor apraxiaHPOHP:0000657
- Very frequent (80% to 99% of cases)
Show the remaining 36
- Biparietal narrowingHPOHP:0004422
- Frequent (30% to 79% of cases)
- Chorioretinal colobomaHPOHP:0000567
- Frequent (30% to 79% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- Iris colobomaHPOHP:0000612
- Frequent (30% to 79% of cases)
Where it sits
- Narrower terms (3)
Other names
5 names
Resolves to: COACH syndrome
- Also called
- cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosisgentile syndromeJoubert syndrome with congenital hepatic fibrosisJoubert syndrome with hepatic defectJS-H