DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Disease: Contracture ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009917
Disease: Contracture
Contracture 		0.010 Biomarker disease BEFREE Symptoms in DNM2-CNM included bilateral ptosis (n = 3), paresis of the external ocular muscles (n = 2), axonal neuropathy (n = 4), restrictive ventilatory involvement (n = 5), and contractures (n = 5), including muscular torticollis (n = 1) and masticatory muscles (n = 2). 21221624 2011