" /> Nail-patella syndrome - CISMeF





Preferred Label : Nail-patella syndrome;

Symbol : NPS;

CISMeF acronym : NPS; NPS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NPS1; Fong disease; ONYCHOOSTEODYSPLASIA; Turner-kieser syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the LIM homeo box transcription factor 1, beta gene (LMX1B, 602575.0001);

Laboratory abnormalities : Proteinuria; Hematuria;

Prefixed ID : #161200;

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30/07/2025


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