Disease: Renal carnitine transport defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		0.010 GeneticVariation disease BEFREE A LFNG mutation is reported in a case of spondylocostal dysostosis (SCD), a skeletal dysplasia with severe malformations of vertebra and rib. 30196550 2018