NDUFAF5 - Gene browser

NDUFAF5

NADH:ubiquinone oxidoreductase complex assembly factor 5

HCNC Approved Symbol: NDUFAF5 (HGNC:15899)
Genomic Coordinates: 20:13,785,028 - 13,821,580 (20p12.1)
Synonyms: dJ842G6.1, C20orf7
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

4Patients

In total, 4 patients were diagnosed with a variant in the NDUFAF5 gene.

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

04
Patient count

Bilateral basal ganglia lesions: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Developmental delay: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Developmental regression: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Dystonia: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Increased blood lactate: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)