" /> Erythrokeratodermia variabilis et progressiva 4 - CISMeF





Preferred Label : Erythrokeratodermia variabilis et progressiva 4;

Symbol : EKVP4;

CISMeF acronym : EKVP4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 3-ketodihydrosphingosine reductase gene (KDSR, 136440.0001);

Prefixed ID : #617526;

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06/07/2025


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