striatonigral degeneration, childhood-onset
MONDO:0014889Mondo
Findings
No curated finding names striatonigral degeneration, childhood-onset 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
- Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
12 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.
- DystoniaHPOHP:0001332
- 2 of 2 reported patients
- HypertoniaHPOHP:0001276
- 2 of 2 reported patients
- Loss of ambulationHPOHP:0002505
- 2 of 2 reported patients
- Unsteady gaitHPOHP:0002317
- 2 of 2 reported patients
- Ankle clonusHPOHP:0011448
- 1 of 2 reported patients
- DroolingHPOHP:0002307
- 1 of 2 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 2 reported patients
- Excessive salivationHPOHP:0003781
- 1 of 2 reported patients
- HypotoniaHPOHP:0001252
- 1 of 2 reported patients
- Lumbar hyperlordosisHPOHP:0002938
- 1 of 2 reported patients
- Steppage gaitHPOHP:0003376
- 1 of 2 reported patients
- Developmental regressionHPOHP:0002376
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.
- VAC14HGNC:25507
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
4 names
Resolves to: striatonigral degeneration, childhood-onset
- Also called
- childhood-onset basal ganglia degeneration syndromeLenk-Ploski syndromeSNDCstriatonigral degeneration, childhood-onset; SNDC