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Possible mitochondrial disorder - nuclear genes v0.5 | DNM1L | Ivone Leong reviewed gene: DNM1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388, Optic atrophy 5, 610708; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Possible mitochondrial disorder - nuclear genes v0.2 | DNM1L |
Ivone Leong gene: DNM1L was added gene: DNM1L was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DNM1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DNM1L were set to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388; Optic atrophy 5, 610708 |