spinocerebellar ataxia, autosomal recessive 28
MONDO:0032923Mondo
Findings
No curated finding names spinocerebellar ataxia, autosomal recessive 28 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
14 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.
- DysarthriaHPOHP:0001260
- 5 of 5 reported patients
- Motor delayHPOHP:0001270
- 5 of 5 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 5 of 6 reported patients
- Abnormal pyramidal signHPOHP:0007256
- 4 of 5 reported patients
- Optic atrophyHPOHP:0000648
- 1 of 3 reported patients
- StrabismusHPOHP:0000486
- 1 of 3 reported patients
- Truncal titubationHPOHP:0030147
- 1 of 6 reported patients
- Gait ataxiaHPOHP:0002066
- Gaze-evoked horizontal nystagmusHPOHP:0007979
- Impaired smooth pursuitHPOHP:0007772
- Mild intellectual disabilityHPOHP:0001256
- MyopiaHPOHP:0000545
Show the remaining 2
- Poor fine motor coordinationHPOHP:0007010
- Short statureHPOHP:0004322
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.
- THG1LHGNC:26053
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2020
- Limited · ClinGen · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: spinocerebellar ataxia, autosomal recessive 28
- Also called
- SCAR28THG1L-related autosomal recessive congenital cerebellar ataxia