X-linked progressive cerebellar ataxia
MONDO:0010547Mondo
Findings
No curated finding names X-linked progressive cerebellar ataxia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
34 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.
- Action tremorHPOHP:0002345
- 2 of 2 reported patients
- AtaxiaHPOHP:0001251
- 2 of 2 reported patients
- Cerebellar atrophyHPOHP:0001272
- 2 of 2 reported patients
- Intention tremorHPOHP:0002080
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Unsteady gaitHPOHP:0002317
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Progressive cerebellar ataxiaHPOHP:0002073
- Very frequent (80% to 99% of cases)
- Axonal lossHPOHP:0003447
- Frequent (30% to 79% of cases)
- Cerebellar vermis atrophyHPOHP:0006855
- Frequent (30% to 79% of cases)
- ClumsinessHPOHP:0002312
- Frequent (30% to 79% of cases)
- Decreased/absent ankle reflexesHPOHP:0200101
- Frequent (30% to 79% of cases)
- Distal lower limb amyotrophyHPOHP:0008944
- Frequent (30% to 79% of cases)
Show the remaining 22
- DysdiadochokinesisHPOHP:0002075
- Frequent (30% to 79% of cases)
- DysmetriaHPOHP:0001310
- Frequent (30% to 79% of cases)
- EMG: neuropathic changesHPOHP:0003445
- Frequent (30% to 79% of cases)
- Frequent fallsHPOHP:0002359
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- Limb ataxiaHPOHP:0002070
- Frequent (30% to 79% of cases)
Genes
2 genes
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.
Where it sits
- A kind of
Other names
2 names
Resolves to: X-linked progressive cerebellar ataxia
- Also called
- spinocerebellar ataxia, X-linked 1, X-linked recessivespinocerebellar ataxia, X-linked type 1