mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Findings

No curated finding names mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 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

Infantile 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, encephalomyopathic form
• syndromic disease

Resolves to: mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Also called

booth-Haworth-Dilling syndromemitochondrial DNA depletion syndrome 5mitochondrial DNA depletion syndrome type 5mitochondrial encephalomyopathy-aminoacidopathy syndromemtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria