MT-ND4 - Gene browser

MT-ND4

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

HCNC Approved Symbol: MT-ND4 (HGNC:7459)
Genomic Coordinates: -:- - - (mitochondria)
Synonyms: ND4, NAD4, MTND4, LHON
Disease Associations: Currently, this gene is not associated with any human disease in OMIM.

Diagnosed Cases

9Patients

In total, 9 patients were diagnosed with a variant in the MT-ND4 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

09
Patient count

Optic atrophy: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Antimongoloid eye slant: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)
Impaired walking: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)
Joint contracture: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)
Joint swelling: 1 (11.1%)
Patient Count: 1 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
1 (11.1%)