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 Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. 11443545 2001