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Gene: NDUFAF5

Green List (high evidence)

OMIM: Isolated complex I deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders (McFarland et al., 2004; Kirby et al., 2004). It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome (see 256000), Leber hereditary optic neuropathy (535000), and some forms of Parkinson disease (see 556500) (Loeffen et al., 2000; Pitkanen et al., 1996; Robinson, 1998).

Mitochondrial complex I deficiency, nuclear type 16 MIM#618238 has onset in infancy or childhood, early death may occur and it has highly variable phenotype and severity

Created: 11 Oct 2024, 4:45 a.m. | Last Modified: 11 Oct 2024, 4:45 a.m.

Panel Version: 1.390

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 16 MIM#618238