" /> Fontaine progeroid syndrome - CISMeF





Preferred Label : Fontaine progeroid syndrome;

Symbol : FPS;

CISMeF acronym : FPS; GCMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Progeroid syndrome, congenital, petty type; GCMS; Craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence; Gorlin-chaudhry-moss syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 24 gene (SLC25A24, 608744.0001);

Prefixed ID : #612289;

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03/05/2025


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