mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
MONDO:0030326Mondo
Findings
No curated finding names mitochondrial dna depletion syndrome 16B (neuroophthalmic type) yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
13 features
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.
- AmenorrheaHPOHP:0000141
- 1 of 1 reported patient
- AnxietyHPOHP:0000739
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Cerebral cortical atrophyHPOHP:0002120
- 1 of 1 reported patient
- DepressionHPOHP:0000716
- 1 of 1 reported patient
- Gait disturbanceHPOHP:0001288
- 1 of 1 reported patient
- HeadacheHPOHP:0002315
- 1 of 1 reported patient
- Open angle glaucomaHPOHP:0012108
- 1 of 1 reported patient
- Optic atrophyHPOHP:0000648
- 1 of 1 reported patient
- Peripheral axonal neuropathyHPOHP:0003477
- 1 of 1 reported patient
- Premature ovarian insufficiencyHPOHP:0008209
- 1 of 1 reported patient
Show the remaining 1
- Visual lossHPOHP:0000572
- 1 of 1 reported patient
Genes
1 gene
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.
- POLG2HGNC:9180
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
- Also called
- MTDPS16B