spinocerebellar ataxia type 29
Findings
No curated finding names spinocerebellar ataxia type 29 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.
Definition from the Mondo Disease Ontology (MONDO:0007298), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Middle age onset · Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
137 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.
- 2-3 toe syndactylyHPOHP:0004691
- 1 of 1 reported patient
- Abnormal eye contactHPOHP:0034435
- 2 of 2 reported patients
- Abnormal facial shapeHPOHP:0001999
- 1 of 1 reported patient
- Abnormal heart morphologyHPOHP:0001627
- 1 of 1 reported patient
- Abnormality of ocular smooth pursuitHPOHP:0000617
- 1 of 1 reported patient
- Action tremorHPOHP:0002345
- 1 of 1 reported patient
- Aplasia/Hypoplasia of the cerebellar vermisHPO
Show the remaining 125
- Broad-based gaitHPOHP:0002136
- 2 of 2 reported patients
- BruxismHPOHP:0003763
- 1 of 1 reported patient
- Cerebellar ataxia associated with quadrupedal gaitHPOHP:0009878
- 7 of 7 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Cerebral visual impairmentHPOHP:0100704
- 1 of 1 reported patient
- Congenital horizontal nystagmusHPOHP:0007859
- 1 of 1 reported patient
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.
- ITPR1HGNC:6180
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2015
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: spinocerebellar ataxia type 29
- Also called
- congenital nonprogressive spinocerebellar ataxiaSCA29spinocerebellar ataxia 29, congenital nonprogressive