leukodystrophy, hypomyelinating, 27
MONDO:0958018Mondo
Findings
No curated finding names leukodystrophy, hypomyelinating, 27 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
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
38 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.
- Babinski signHPOHP:0003487
- 2 of 2 reported patients
- Cerebellar atrophyHPOHP:0001272
- 4 of 4 reported patients
- Cerebral atrophyHPOHP:0002059
- 3 of 3 reported patients
- CNS hypomyelinationHPOHP:0003429
- 2 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients
- DystoniaHPOHP:0001332
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- HyperreflexiaHPOHP:0001347
- 4 of 4 reported patients
- HypertoniaHPOHP:0001276
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- Joint hypermobilityHPOHP:0001382
- 2 of 2 reported patients
- LeukodystrophyHPOHP:0002415
- 4 of 4 reported patients
Show the remaining 26
- Loss of ambulationHPOHP:0002505
- 1 of 1 reported patient
- Poor head controlHPOHP:0002421
- 1 of 1 reported patient
- SpasticityHPOHP:0001257
- 3 of 3 reported patients
- Thin corpus callosumHPOHP:0033725
- 4 of 4 reported patients
- Truncal ataxiaHPOHP:0002078
- 3 of 3 reported patients
- VentriculomegalyHPOHP:0002119
- 3 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.
- POLR1AHGNC:17264
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of