mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)

Findings

No curated finding names mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic 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

Congenital 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

Resolves to: mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)

Also called

mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type); MTDPS14mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)mitochondrial DNA depletion syndrome caused by mutation in OPA1MTDPS14OPA1 mitochondrial DNA depletion syndrome