DISEASES

Disease-gene associations mined from literature

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 ...