NDUFAF6 - Gene browser

NDUFAF6

NADH:ubiquinone oxidoreductase complex assembly factor 6

HCNC Approved Symbol: NDUFAF6 (HGNC:28625)
Genomic Coordinates: 8:94,895,799 - 95,118,496 (8q22.1)
Synonyms: MGC40214, C8orf38
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

9Patients

In total, 9 patients were diagnosed with a variant in the NDUFAF6 gene.

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

09
Patient count

Basal ganglia necrosis: 6 (66.7%)
Patient Count: 6 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
6 (66.7%)
Dystonia: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Global developmental delay: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Delayed development: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Dystonia, generalized: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)