DHCR7, 7-dehydrocholesterol reductase, 1717

N. diseases: 266; N. variants: 96
Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease BEFREE The RSH/SLOS phenotypic spectrum is broad; however, typical features include microcephaly, ptosis, a small upturned nose, micrognathia, postaxial polydactaly, second and third toe syndactaly, genital anomalies, growth failure, and mental retardation. 11001807 2000
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO