neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline
MONDO:0957985Mondo
Findings
No curated finding names neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
16 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
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 2 of 2 reported patients
- Cognitive regressionHPOHP:0034332
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 2 of 2 reported patients
- Loss of ambulationHPOHP:0002505
- 1 of 1 reported patient
- Peripheral axonal neuropathyHPOHP:0003477
- 2 of 2 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 1 of 1 reported patient
- Skeletal muscle atrophyHPOHP:0003202
- 2 of 2 reported patients
- Unsteady gaitHPOHP:0002317
- 2 of 2 reported patients
- AreflexiaHPOHP:0001284
- 1 of 2 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 2 reported patients
- DysdiadochokinesisHPOHP:0002075
- 1 of 2 reported patients
Show the remaining 4
- DysphagiaHPOHP:0002015
- 1 of 2 reported patients
- Gowers signHPOHP:0003391
- 1 of 2 reported patients
- ScoliosisHPOHP:0002650
- 1 of 2 reported patients
- TremorHPOHP:0001337
- 1 of 2 reported patients
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.
- CAPRIN1HGNC:6743
- Moderate · ClinGen · Autosomal dominant · 2026
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of