leukoencephalopathy, progressive, with ovarian failure
MONDO:0014387Mondo
Findings
No curated finding names leukoencephalopathy, progressive, with ovarian failure 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
- Middle age onset · Juvenile onset · Progressive · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
23 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.
- Cytochrome C oxidase-negative muscle fibersHPOHP:0003688
- 2 of 2 reported patients
- Developmental regressionHPOHP:0002376
- 6 of 6 reported patients
- LeukoencephalopathyHPOHP:0002352
- 6 of 6 reported patients
- Periventricular leukomalaciaHPOHP:0006970
- 6 of 6 reported patients
- Cerebellar atrophyHPOHP:0001272
- 5 of 6 reported patients
- HyperreflexiaHPOHP:0001347
- 5 of 6 reported patients
- Premature ovarian insufficiencyHPOHP:0008209
- 5 of 6 reported patients
- AtaxiaHPOHP:0001251
- 4 of 6 reported patients
- Babinski signHPOHP:0003487
- 4 of 6 reported patients
- DepressionHPOHP:0000716
- 3 of 6 reported patients
- DysarthriaHPOHP:0001260
- 2 of 4 reported patients
- NystagmusHPOHP:0000639
- 3 of 6 reported patients
Show the remaining 11
- DystoniaHPOHP:0001332
- 2 of 6 reported patients
- Lateral ventricle dilatationHPOHP:0006956
- 2 of 6 reported patients
- Loss of speechHPOHP:0002371
- 2 of 6 reported patients
- Muscle weaknessHPOHP:0001324
- 2 of 6 reported patients
- SpasticityHPOHP:0001257
- 2 of 6 reported patients
- ApraxiaHPOHP:0002186
- 1 of 6 reported patients
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.
- AARS2HGNC:21022
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019