spinocerebellar ataxia, autosomal recessive 29
MONDO:0030312Mondo
Findings
No curated finding names spinocerebellar ataxia, autosomal recessive 29 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 · Childhood onset
HPO, annotations 2026-09-02
Features
22 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
- 7 of 7 reported patients
- DysarthriaHPOHP:0001260
- 6 of 6 reported patients
- Generalized dystoniaHPOHP:0007325
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Inability to walkHPOHP:0002540
- 1 of 1 reported patient
- Optic disc pallorHPOHP:0000543
- 1 of 1 reported patient
- Peripheral axonal neuropathyHPOHP:0003477
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 8 of 9 reported patients
- Intellectual disabilityHPOHP:0001249
- 8 of 9 reported patients
- Motor delayHPOHP:0001270
- 8 of 9 reported patients
- Cerebellar vermis atrophyHPOHP:0006855
- 7 of 9 reported patients
- NystagmusHPOHP:0000639
- 5 of 8 reported patients
Show the remaining 10
- Myopathic faciesHPOHP:0002058
- 4 of 9 reported patients
- Absent speechHPOHP:0001344
- 3 of 9 reported patients
- Cerebellar atrophyHPOHP:0001272
- 2 of 8 reported patients
- Axial hypotoniaHPOHP:0008936
- 2 of 9 reported patients
- SeizureHPOHP:0001250
- 2 of 9 reported patients
- Retinal pigment epithelial mottlingHPOHP:0007814
- 1 of 6 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.
- VPS41HGNC:12713
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
Other names
3 names
Resolves to: spinocerebellar ataxia, autosomal recessive 29
- Also called
- Barakat-Van Ham-Kaya syndromeneurodevelopmental disorder with hypotonia and cerebellar ataxiaSCAR29