WDR73, WD repeat domain 73, 84942

N. diseases: 98; N. variants: 13
Disease: Dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease BEFREE We document postnatal onset of CA, a retinopathy, basal ganglia degeneration, and short stature as novel features of WDR73-related disease, and define WDR73-related disease as a new entity of infantile neurodegeneration. 26123727 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO