Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
0.010 GeneticVariation BEFREE The individuals with p.G13C had many typical findings including polyhydramnios, failure-to-thrive, HCM, macrocephaly with posterior fossa crowding, and developmental delay. 21438134 2011