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bn:22133137n

Noun Concept

Categories: Syndromes, Articles with short description, Brain disorders

COACH syndrome Joubert syndrome with hepatic defect Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, and Hepatic Fibrosis Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis Gentile syndrome

COACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Coloboma, and Hepatic fibrosis. Wikipedia

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COACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Coloboma, and Hepatic fibrosis. Wikipedia

COACH syndrome, also known as Joubert syndrome with hepatic defect, is a rare autosomal recessive genetic disease. Wikipedia

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF) Wikidata

IS A

disease

syndrome

Joubert syndrome

autosomal recessive disease

HEALTH SPECIALTY

medical genetics

Wikipedia

COACH syndrome

Wikidata

COACH Syndrome, COACH syndrome, Joubert syndrome with hepatic defect

Wikipedia Redirections

COACH Syndrome, Coach syndrome, Joubert syndrome with hepatic defect

Wikidata Alias

Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, and Hepatic Fibrosis, Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis, COACH SYNDROME, COACH syndrome, Gentile syndrome, Joubert Syndrome With Congenital Hepatic Fibrosis, Joubert syndrome with hepatic defect, JS-H