DNM1L, dynamin 1 like, 10059

N. diseases: 273; N. variants: 15
Disease: Cerebral dysgenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0456144
Disease: Cerebral dysgenesis
Cerebral dysgenesis 		0.010 Biomarker disease BEFREE There is only a single previous report of DNM1L-related clinical disease: a female neonate with encephalopathy due to defective mitochondrial and peroxisomal fission (EMPF; OMIM #614388), a lethal disorder characterized by cerebral dysgenesis, seizures, lactic acidosis, elevated very long chain fatty acids, and abnormally elongated mitochondria and peroxisomes. 26604000 2016