Molecular autopsy
Gene: NDUFS4Phenotypes for gene: NDUFS4 were changed from Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency to Leigh syndrome, 256000; Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency
Added phenotypes Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency for gene: NDUFS4
Added phenotypes Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFS4
gene: NDUFS4 was added gene: NDUFS4 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFS4 were set to 27604308 Phenotypes for gene: NDUFS4 were set to Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency