leukodystrophy, hypomyelinating, 11
Findings
No curated finding names leukodystrophy, hypomyelinating, 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene.
Definition from the Mondo Disease Ontology (MONDO:0014666), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
14 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
- 8 of 8 reported patients
- CNS hypomyelinationHPOHP:0003429
- 8 of 8 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 8 of 8 reported patients
- TremorHPOHP:0001337
- 8 of 8 reported patients
- Global developmental delayHPOHP:0001263
- 7 of 8 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 8 reported patients
- SpasticityHPOHP:0001257
Show the remaining 2
- MyoclonusHPOHP:0001336
- 1 of 8 reported patients
- LeukodystrophyHPOHP:0002415
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.
- POLR1CHGNC:20194
- Strong · Ambry Genetics · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: leukodystrophy, hypomyelinating, 11
- Also called
- HLD11hypomyelinating leukodystrophy 11leukodystrophy caused by mutation in POLR1CPOLR1C leukodystrophy