Human genes for scalp-ear-nipple syndrome
Scalp-ear-nipple syndrome [DOID:0111550]
An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in KCTD1 on chromosome 18q11.2.
Synonyms: scalp-ear-nipple syndrome, DOID:0111550, scalpearnipple syndrome, scalp-ear-nipple disease, scalp-ear-nipple disorder ...