MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
Disease: Kaufman-McKusick syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		0.010 GeneticVariation disease BEFREE The phenotypic triad of anomalies most closely resembled McKusick-Kaufman syndrome (MKS; OMIM 236700), a rare multiple congenital anomaly syndrome comprised of hydrometrocolpos (HMC), PAP, and congenital heart malformation that is inherited in an autosomal recessive pattern. 15266619 2004