" /> Stickler syndrome, type I, nonsyndromic ocular - CISMeF





Preferred Label : Stickler syndrome, type I, nonsyndromic ocular;

CISMeF acronym : DRRD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Stickler syndrome, type I, predominantly ocular; Stickler syndrome, atypical;

Included titles and symbols : Rhegmatogenous retinal detachment, autosomal dominant; DRRD;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen, type II, alpha-1 gene (COL2A1, 120140.0034);

Prefixed ID : #609508;

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02/05/2025


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