autosomal recessive spinocerebellar ataxia 17
Findings
No curated finding names autosomal recessive spinocerebellar ataxia 17 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014503), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Slowly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
37 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.
- Appendicular hypotoniaHPOHP:0012389
- 2 of 2 reported patients · Juvenile onset
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Broad-based gaitHPOHP:0002136
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Cerebellar hypoplasiaHPOHP:0001321
- 3 of 3 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Clumsiness
Show the remaining 25
- Frequent fallsHPOHP:0002359
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Gait ataxiaHPOHP:0002066
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
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.
- CWF19L1HGNC:25613
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: autosomal recessive spinocerebellar ataxia 17
- Also called
- autosomal recessive congenital cerebellar ataxia caused by mutation in CWF19L1autosomal recessive spinocerebellar ataxia type 17CWF19L1 autosomal recessive congenital cerebellar ataxiaSCAR17spinocerebellar ataxia autosomal recessive type 17spinocerebellar ataxia, autosomal recessive type 17