MKKS, McKusick-Kaufman syndrome, 8195

N. diseases: 123; N. variants: 37
Disease: Progressive cone dystrophy (without rod involvement) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
Progressive cone dystrophy (without rod involvement) 		0.100 GeneticVariation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019