" /> Zimmermann-laband syndrome 1 - CISMeF





Preferred Label : Zimmermann-laband syndrome 1;

Symbol : ZLS1;

CISMeF acronym : ZLS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Laband syndrome; Fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly;

Description : Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism, and abnormalities of the cartilage of the nose and/or ears (summary by Balasubramanian and Parker, 2010).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium channel, voltage-gated, subfamily H, member-1 gene (KCNH1, 603305.0005);

Prefixed ID : #135500;

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01/05/2025


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