DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Disease: Akinesia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085623
Disease: Akinesia
Akinesia 		0.010 GeneticVariation disease 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