Human genes for palmoplantar keratoderma and congenital alopecia 1
Palmoplantar keratoderma and congenital alopecia 1 [DOID:0111244]
An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31.
Synonyms: palmoplantar keratoderma and congenital alopecia 1, DOID:0111244, autosomal dominant palmoplantar hyperkeratosis and congenital alopecia, autosomal dominant palmoplantar keratoderma and congenital alopecia, keratoderma-hypotrichosis-leukonychia totalis syndrome ...