Conditions / Syndrome
COACH syndrome
info · Syndrome
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
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).
Signs and symptoms
- Global developmental delay
- Moderate intellectual disability
- Hypotonia
- Hepatic fibrosis
- Molar tooth sign on MRI
- Hepatomegaly
- Oculomotor apraxia
- Elevated circulating hepatic transaminase concentration
- Ataxia
- Nystagmus
Also known as: 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