" /> Cerebroretinal microangiopathy with calcifications and cysts 2 - CISMeF





Preferred Label : Cerebroretinal microangiopathy with calcifications and cysts 2;

Symbol : CRMCC2;

CISMeF acronym : CRMCC2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the STN1, CST complex subunit gene (STN1, 613128.0001);

Laboratory abnormalities : Increased apoptosis; Telomere defects; Fibroblasts show premature senescence; Defective DNA damage response and repair;

Prefixed ID : #617341;

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13/06/2025


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