spinocerebellar ataxia, autosomal recessive 30
MONDO:0030318Mondo
Findings
No curated finding names spinocerebellar ataxia, autosomal recessive 30 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
17 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.
- Compulsive behaviorsHPOHP:0000722
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 8 of 8 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 2 of 2 reported patients
- AtaxiaHPOHP:0001251
- 3 of 4 reported patients
- DysmetriaHPOHP:0001310
- 3 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 4 reported patients
- Cerebellar atrophyHPOHP:0001272
- 4 of 6 reported patients
- Psychotic episodesHPOHP:0000725
- 4 of 6 reported patients
- Cerebral atrophyHPOHP:0002059
- 2 of 6 reported patients
- Brisk reflexesHPOHP:0001348
- 1 of 4 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 4 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 4 reported patients
Show the remaining 5
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- 1 of 4 reported patients
- Increased circulating pyruvate concentrationHPOHP:0003542
- 1 of 4 reported patients
- TitubationHPOHP:0030187
- 1 of 4 reported patients
- TremorHPOHP:0001337
- 1 of 4 reported patients
- Unsteady gaitHPOHP:0002317
- 1 of 4 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.
- PITRM1HGNC:17663
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Illumina · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: spinocerebellar ataxia, autosomal recessive 30
- Also called
- SCAR30