mitochondrial DNA depletion syndrome 20 (mngie type)

Findings

No curated finding names mitochondrial DNA depletion syndrome 20 (mngie type) 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

Juvenile onset · Childhood onset · Early young adult 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 DNA depletion syndrome
• mitochondrial neurogastrointestinal encephalomyopathy

Resolves to: mitochondrial DNA depletion syndrome 20 (mngie type)

Also called

mitochondrial neurogastrointestinal encephalomyopathy syndrome, lig3-relatedMTDPS20