COACH syndrome: Symptoms, Diagnosis and Treatment
By Dr. Ashley Barnes, DO · · Genetic Medicine
Patients often ask us about COACH syndrome. Here is what our Genetic Medicine clinicians want you to know.
About this topic
Topic: COACH 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, RPGRIP1L).
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This article is for general information and does not replace advice from your clinician.