NDUFA4 - Gene browser | 3billion

NDUFA4

NDUFA4

NDUFA4 mitochondrial complex associated

HCNC Approved Symbol: NDUFA4 (HGNC:7687)
Genomic Coordinates: 7:10,931,943 - 10,940,153 (7p21.3)
Synonyms: MLRQ, CI-9k, COXFA4, MRCAF1, MISTR1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the NDUFA4 gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Global development delay: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Hypotonia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

NDUFA4 - Gene browser | 3billion