spinocerebellar ataxia, autosomal recessive 33
MONDO:0859360Mondo
Findings
No curated finding names spinocerebellar ataxia, autosomal recessive 33 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
20 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.
- Broad-based gaitHPOHP:0002136
- 6 of 6 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 5 of 5 reported patients
- Delayed ability to walkHPOHP:0031936
- 6 of 6 reported patients
- Dilated fourth ventricleHPOHP:0002198
- 5 of 5 reported patients
- Enlarged cisterna magnaHPOHP:0002280
- 5 of 5 reported patients
- Frequent fallsHPOHP:0002359
- 6 of 6 reported patients
- Gait ataxiaHPOHP:0002066
- 6 of 6 reported patients
- Generalized muscle weaknessHPOHP:0003324
- 6 of 6 reported patients
- Head titubationHPOHP:0002599
- 6 of 6 reported patients
- Intention tremorHPOHP:0002080
- 6 of 6 reported patients
- Truncal ataxiaHPOHP:0002078
- 6 of 6 reported patients
- DysarthriaHPOHP:0001260
- 5 of 6 reported patients
Show the remaining 8
- HypotoniaHPOHP:0001252
- 5 of 6 reported patients
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 3 of 6 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 6 reported patients
- ArrhythmiaHPOHP:0011675
- 0 of 6 reported patients
- Gowers signHPOHP:0003391
- 0 of 6 reported patients
- MicrocephalyHPOHP:0000252
- 0 of 6 reported patients