tremor-ataxia-central hypomyelination syndrome
MONDO:0018656Mondo
Findings
No curated finding names tremor-ataxia-central hypomyelination syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
41 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 basal ganglia morphologyHPOHP:0002134
- Frequent (30% to 79% of cases)
- Abnormality of ocular smooth pursuitHPOHP:0000617
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Autonomic bladder dysfunctionHPOHP:0005341
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Frequent (30% to 79% of cases)
- ClumsinessHPOHP:0002312
- Frequent (30% to 79% of cases)
- CNS hypomyelinationHPOHP:0003429
- Frequent (30% to 79% of cases)
- Delayed eruption of teethHPOHP:0000684
- Frequent (30% to 79% of cases)
- Delayed pubertyHPOHP:0000823
- Frequent (30% to 79% of cases)
- Developmental regressionHPOHP:0002376
- Frequent (30% to 79% of cases)
- DysmetriaHPOHP:0001310
- Frequent (30% to 79% of cases)
Show the remaining 29
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- High myoinositol in brain by MRSHPOHP:0025460
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- HypodontiaHPOHP:0000668
- Frequent (30% to 79% of cases)
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.
- POLR3AHGNC:30074
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: tremor-ataxia-central hypomyelination syndrome
- Also called
- TACH syndrome