leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
Findings
No curated finding names leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 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 POLR3B gene.
Definition from the Mondo Disease Ontology (MONDO:0013722), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Childhood onset
HPO, annotations 2026-09-02
Features
33 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.
- Abnormal pyramidal signHPOHP:0007256
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
- 8 of 8 reported patients
- Cerebellar atrophyHPOHP:0001272
- 5 of 5 reported patients
- Cerebellar vermis atrophyHPOHP:0006855
- 3 of 3 reported patients
- CNS hypomyelinationHPOHP:0003429
- 4 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- DysdiadochokinesisHPOHP:0002075
Show the remaining 21
- Hip dislocationHPOHP:0002827
- 1 of 1 reported patient
- Hypoplasia of the corpus callosumHPOHP:0002079
- 4 of 4 reported patients
- Impaired horizontal smooth pursuitHPOHP:0001151
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- LeukodystrophyHPOHP:0002415
- 5 of 5 reported patients
- Optic atrophyHPOHP:0000648
- 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.
- POLR3BHGNC:30348
- Definitive · Illumina · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
6 names
Resolves to: leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
- Also called
- endosteal sclerosis-cerebellar hypoplasia syndromeHLD8hypomyelinating leukodystrophy 8hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadismleukodystrophy caused by mutation in POLR3BPOLR3B leukodystrophy