Structural basal ganglia disordersGene: NDUFS3
Associated with phenotype in OMIM, not in G2P. At least 2 variants reported in two cases, only one of which had the relevant phenotype of Leigh syndrome due to mitochondrial complex I deficiency 256000
Created: 2 Mar 2017, 3:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for NDUFS3 were set to Leigh syndrome due to mitochondrial complex I deficiency 256000; Mitochondrial complex I deficiency 252010
This gene has been classified as Red List (Low Evidence).
NDUFS3 was added to Structural basal ganglia disorderspanel. Sources: Literature
NDUFS3 was created by Manju