Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 18-06-2019
Symbol ZLS1
Location 1q32.2
Name Zimmermann-Laband syndrome 1
Corresponding gene KCNH1
Main clinical features
  • 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
  • Genetic determination autosomal dominant
    Function/system disorder
    Type disease
    Remark(s)