ataxia, intention tremor, and hypotonia syndrome, childhood-onset
MONDO:0859158Mondo
Findings
No curated finding names ataxia, intention tremor, and hypotonia syndrome, childhood-onset yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
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.
- AtaxiaHPOHP:0001251
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- HypotoniaHPOHP:0001252
- 4 of 4 reported patients
- Intention tremorHPOHP:0002080
- 4 of 4 reported patients
- EsotropiaHPOHP:0000565
- 3 of 4 reported patients
- ScoliosisHPOHP:0002650
- 2 of 4 reported patients
- AnkyloglossiaHPOHP:0010296
- 1 of 4 reported patients
- Chronic constipationHPOHP:0012450
- 1 of 4 reported patients
- DysarthriaHPOHP:0001260
- 1 of 4 reported patients · Young adult onset
- DysmetriaHPOHP:0001310
- 1 of 4 reported patients · Young adult onset
- NystagmusHPOHP:0000639
- 1 of 4 reported patients
- Speech apraxiaHPOHP:0011098
- 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.
- POU4F1HGNC:9218
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of