Human genes for McKusick-Kaufman syndrome
McKusick-Kaufman syndrome [DOID:0111255]
A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2.
Synonyms: McKusick-Kaufman syndrome, DOID:0111255, McKusickKaufman syndrome, McKusick-Kaufman disease, McKusick-Kaufman disorder ...