NDUFA5

HGNC ↗

Mitochondriopathy with complex I deficiency (severe congenital heart defects, hematological abnormalities, Leigh syndrome-like neurological involvement)

1 article(s) in the watch · Constitutional genetics

Curated publications

7/10

Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.

Mitochondriopathy with complex I deficiency (severe congenital heart defects, hematological abnormalities, Leigh syndrome-like neurological involvement)

Gén.13 May 2026

External references

OMIM ↗GeneReviews ↗ClinVar ↗NCBI Gene ↗

Automatic aggregation page — a clinical introduction may be added.