rs1135402725, PDHX

N. diseases: 6
Disease: Global developmental delay ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.010 GeneticVariation BEFREE The clinical phenotype of the twenty R446* homozygotes was relatively homogeneous, with lactic acidosis crisis in the first days or months of life as the most common initial presentation (15/20 patients) and delayed psychomotor development and/or seizures in infancy as the leading manifestations in a smaller group (5/20 patients). 25087164 2015