" /> Enhanced s-cone syndrome - CISMeF





Preferred Label : Enhanced s-cone syndrome;

Symbol : ESCS;

CISMeF acronym : ESCS;

Type : Phenotype, molecular basis known;

Included titles and symbols : Goldmann-favre syndrome; Retinoschisis with early hemeralopia; Favre hyaloideoretinal degeneration;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the nuclear receptor subfamily 2, group E, member 3 gene (NR2E3, 604485.0001);

Prefixed ID : #268100;

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27/07/2025


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