Inherited white matter disordersGene: NDUFAF3
Associated with phenotype in OMIM, not in G2P. At least 5 variants have been reported in 4 cases, they all present with an encephalopathic / raised lactate in early infancy with early mortality in 3/4 cases. All have documented white matter changes.
Created: 15 Mar 2018, 12:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial complex I deficiency 252010
This gene has been classified as Green List (High Evidence).
NDUFAF3 was added to Inherited white matter disorders panel. Sources: Literature
NDUFAF3 was created by Sarah Leigh