rs397514735, DNM2

N. diseases: 2
Disease: Akinesia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Akinesia
CUI: C0085623
Disease: Akinesia
0.010 GeneticVariation BEFREE We report the first homozygous mutation in the DNM2 protein p.Phe379Val, in three consanguineous patients with a lethal congenital syndrome associating akinesia, joint contractures, hypotonia, skeletal abnormalities, and brain and retinal hemorrhages. 23092955 2013