Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0392477
Disease: Congenital flat foot
Congenital flat foot
0.010 Biomarker disease BEFREE Recently, we reported a newly recognised inborn error due to deficiency of P5CS in two sibs, one presenting at birth with hypotonia, dysmorphic signs, pes planus and clonic seizures. 15517380 2005