rs121908332, KCNK9

N. diseases: 5
Disease: Global developmental delay ×
Source: BEFREE ×
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 Exome sequencing in four new patients with developmental delay and central hypotonia revealed de novo G236R mutations. 27151206 2016