mitochondrial DNA depletion syndrome 13

Findings

No curated finding names mitochondrial DNA depletion syndrome 13 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 · Juvenile onset · Neonatal onset · Childhood onset · Antenatal 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

Resolves to: mitochondrial DNA depletion syndrome 13

Also called

FBXL4 mitochondrial DNA depletion syndromemitochondrial DNA depletion syndrome caused by mutation in FBXL4mitochondrial DNA depletion syndrome type 13mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies