Disease: CAMFAK syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859312
Disease: CAMFAK syndrome
CAMFAK syndrome 		0.300 GermlineCausalMutation disease ORPHANET First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. 17273966 2007