Human genes for palmoplantar keratoderma and congenital alopecia 2
Palmoplantar keratoderma and congenital alopecia 2 [DOID:0111245]
An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation.
Synonyms: palmoplantar keratoderma and congenital alopecia 2, DOID:0111245, autosomal recessive palmoplantar hyperkeratosis and congenital alopecia, autosomal recessive palmoplantar keratoderma and congenital alopecia, CASS ...