" /> Retinitis pigmentosa with or without skeletal anomalies - CISMeF





Preferred Label : Retinitis pigmentosa with or without skeletal anomalies;

Symbol : RPSKA;

CISMeF acronym : RPSKA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Metaphyseal chondrodysplasia with retinitis pigmentosa;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CWC27 spliceosome-associated cyclophilin gene (CWC27, 617170.0001);

Prefixed ID : #250410;

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27/07/2025


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