Mitochondrial disorders
Gene: NDUFS4
Phenotypes for gene: NDUFS4 were changed from Isolated complex I deficiency; Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency to Isolated complex I deficiency; Leigh syndrome, 256000; Mitochondrial complex I deficiency, 252010; Mitochondrial Diseases; Mitochondrial Respiratory Chain Complex I Deficiency
Victorian Clinical Genetics Services was added to NDUFS4. Panel: Mitochondrial disorders
Model of inheritance for gene NDUFS4 was changed to BIALLELIC, autosomal or pseudoautosomal
NDUFS4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene NDUFS4 was changed to BIALLELIC, autosomal or pseudoautosomal
NDUFS4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene NDUFS4 was changed to BIALLELIC, autosomal or pseudoautosomal
NDUFS4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene NDUFS4 was changed to BIALLELIC, autosomal or pseudoautosomal
NDUFS4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
NDUFS4 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services