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COACH syndrome
Summary
- Synonym
-
- Gentile syndrome
- JS-H
- Joubert syndrome with congenital hepatic fibrosis
- Joubert syndrome with hepatic defect
- cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis
- Definition
- A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L).
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111589
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001744 | Splenomegaly |
| HP:0002085 | Occipital encephalocele |
| HP:0002104 | Apnea |
| HP:0002240 | Hepatomegaly |
| HP:0002269 | Abnormality of neuronal migration |
| HP:0002342 | Intellectual disability, moderate |
| HP:0002553 | Highly arched eyebrow |
| HP:0002612 | Congenital hepatic fibrosis |
| HP:0002650 | Scoliosis |
| HP:0002793 | Abnormal pattern of respiration |
