leukodystrophy, hypomyelinating, 15
MONDO:0054782Mondo
Findings
No curated finding names leukodystrophy, hypomyelinating, 15 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 · Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
32 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.
- AtaxiaHPOHP:0001251
- 4 of 4 reported patients
- Cerebral atrophyHPOHP:0002059
- 4 of 4 reported patients
- CNS hypomyelinationHPOHP:0003429
- 4 of 4 reported patients
- Cognitive regressionHPOHP:0034332
- 4 of 4 reported patients
- Developmental regressionHPOHP:0002376
- 4 of 4 reported patients
- DystoniaHPOHP:0001332
- 4 of 4 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 4 of 4 reported patients
- LeukodystrophyHPOHP:0002415
- 4 of 4 reported patients
- DysphagiaHPOHP:0002015
- 3 of 4 reported patients
- Motor regressionHPOHP:0033044
- 3 of 4 reported patients
- Optic atrophyHPOHP:0000648
- 3 of 4 reported patients
- Cerebellar atrophyHPOHP:0001272
- 2 of 4 reported patients
Show the remaining 20
- DysarthriaHPOHP:0001260
- 2 of 4 reported patients
- Intention tremorHPOHP:0002080
- 2 of 4 reported patients
- NystagmusHPOHP:0000639
- 2 of 4 reported patients
- SpasticityHPOHP:0001257
- 2 of 4 reported patients
- Abnormal pyramidal signHPOHP:0007256
- 1 of 4 reported patients
- AmblyopiaHPOHP:0000646
- 1 of 4 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.
- EPRS1HGNC:3418
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of