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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.

Frequently observed phenotypes

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

Optic atrophy
 2 (22.2%)
Antimongoloid eye slant
 
1 (11.1%)
Impaired walking
 
1 (11.1%)
Joint contracture
 
1 (11.1%)
Joint swelling
 
1 (11.1%)
MT-ND4 - Gene browser | 3billion