mitochondrial complex V (ATP synthase) deficiency, nuclear type 5

Findings

No curated finding names mitochondrial complex V (ATP synthase) deficiency, nuclear type 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

Onset and course

Neonatal onset · Childhood onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• mitochondrial respiratory chain complex deficiency

Resolves to: mitochondrial complex V (ATP synthase) deficiency, nuclear type 5

Also called

MC5DN5Mitochondrial Complex 5 (ATP Synthase) Deficiency, ATP5F1D Typemitochondrial complex v (atp synthase) deficiency