spastic ataxia 9, autosomal recessive
MONDO:0032753Mondo
Findings
No curated finding names spastic ataxia 9, autosomal recessive 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
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
23 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 pyramidal signHPOHP:0007256
- 2 of 2 reported patients
- AtaxiaHPOHP:0001251
- 2 of 2 reported patients
- Babinski signHPOHP:0003487
- 2 of 2 reported patients
- Distal amyotrophyHPOHP:0003693
- 2 of 2 reported patients
- Distal muscle weaknessHPOHP:0002460
- 2 of 2 reported patients
- DysmetriaHPOHP:0001310
- 2 of 2 reported patients
- Growth delayHPOHP:0001510
- 2 of 2 reported patients
- HammertoeHPOHP:0001765
- 2 of 2 reported patients
- Hoffmann signHPOHP:0031993
- 2 of 2 reported patients
- HyperreflexiaHPOHP:0001347
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
Show the remaining 11
- Pes cavusHPOHP:0001761
- 2 of 2 reported patients
- Premature ovarian insufficiencyHPOHP:0008209
- 1 of 1 reported patient · Female
- Slow saccadic eye movementsHPOHP:0000514
- 2 of 2 reported patients
- SpasticityHPOHP:0001257
- 2 of 2 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 2 reported patients
- Cerebellar vermis atrophyHPOHP:0006855
- 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.
- CHP1HGNC:17433
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
- A kind of