" /> Coach syndrome 1 - CISMeF





Preferred Label : Coach syndrome 1;

Symbol : COACH1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Joubert syndrome with congenital hepatic fibrosis; Cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis; Coach syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transmembrane protein 67 gene (TMEM67, 609884.0013); Caused by mutation in the coiled-coil and C2 domains-containing protein 2A gene (CC2D2A, 612013.0006); Caused by mutation in the RPGRIP1-like gene (RPGRIP1L, 610937.0011);

Laboratory abnormalities : Abnormal liver enzymes;

Prefixed ID : #216360;

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02/05/2025


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