Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.100 CausalMutation phenotype CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015