mitochondrial DNA depletion syndrome 7 (hepatocerebral type)

Findings

No curated finding names mitochondrial DNA depletion syndrome 7 (hepatocerebral 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

Infantile onset · Progressive

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

• autosomal recessive degenerative and progressive cerebellar ataxia
• mitochondrial DNA depletion syndrome, hepatocerebral form

Resolves to: mitochondrial DNA depletion syndrome 7 (hepatocerebral type)

Also called

autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNKIOSCAmitochondrial DNA depletion syndrome type 7OHAHA syndromeophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndromeTWNK autosomal recessive degenerative and progressive cerebellar ataxia