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GENATLAS PHENOTYPE
last update : 26-06-2010
Symbol HMS
Location 11q14.1-q14.3
Name Haim-Munk syndrome
Corresponding gene CTSC
Main clinical features congenital palmoplantar keratosis, pes planus, onychogryphosis, periodontosis, arachnodactyly, and acroosteolysis
Genetic determination autosomal recessive
Function/system disorder dermatology
Type disease
Remark(s)