" /> Rhyns syndrome - CISMeF





Preferred Label : Rhyns syndrome;

Symbol : RHYNS;

CISMeF acronym : RHYNS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia; Retinitis pigmentosa syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transmembrane protein-67 gene (TMEM67, 609884.0026);

Prefixed ID : #602152;

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29/07/2025


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