POLR-related leukodystrophy
Findings
No curated finding names POLR-related leukodystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare hypomyelinating leukodystrophy disorder in which the cause of the disease is a variation in any of the POLR genes, including POLR1C, POLR3A or POLR3B. It is characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.
Definition from the Mondo Disease Ontology (MONDO:0100605), read 2026-09-29. CC BY 4.0.
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.
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Cerebral hypomyelinationHPOHP:0006808
- Very frequent (80% to 99% of cases)
- DysarthriaHPOHP:0001260
- Very frequent (80% to 99% of cases)
- DystoniaHPOHP:0001332
- Very frequent (80% to 99% of cases)
- HypodontiaHPOHP:0000668
- Very frequent (80% to 99% of cases)
- Hypogonadotropic hypogonadism
Show the remaining 20
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- Hyperintensity of cerebral white matter on MRIHPOHP:0030890
- Frequent (30% to 79% of cases)
- Progressive gait ataxiaHPOHP:0007240
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- TremorHPOHP:0001337
- Frequent (30% to 79% of cases)
- Upper motor neuron dysfunctionHPOHP:0002493
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
- Narrower terms (2)
Other names
1 name
Resolves to: POLR-related leukodystrophy
- Also called
- 4H leukodystrophy