ataxia with oculomotor apraxia type 3
MONDO:0014084Mondo
Findings
No curated finding names ataxia with oculomotor apraxia type 3 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
- Juvenile onset · Progressive · Early young adult onset
HPO, annotations 2026-09-02
Features
15 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
- Cerebellar atrophyHPOHP:0001272
- 3 of 3 reported patients
- Distal amyotrophyHPOHP:0003693
- 4 of 4 reported patients
- Distal sensory impairmentHPOHP:0002936
- 4 of 4 reported patients
- DysarthriaHPOHP:0001260
- 4 of 4 reported patients
- DysmetriaHPOHP:0001310
- 4 of 4 reported patients
- Elevated circulating alpha-fetoprotein concentrationHPOHP:0006254
- 4 of 4 reported patients
- Frequent fallsHPOHP:0002359
- 4 of 4 reported patients
- Slow saccadic eye movementsHPOHP:0000514
- 4 of 4 reported patients
- AreflexiaHPOHP:0001284
- 3 of 4 reported patients
- Muscle weaknessHPOHP:0001324
- 3 of 4 reported patients
- NystagmusHPOHP:0000639
- 3 of 4 reported patients
Show the remaining 3
- Oculomotor apraxiaHPOHP:0000657
- 3 of 4 reported patients
- Peripheral axonal neuropathyHPOHP:0003477
- 3 of 4 reported patients
- HyporeflexiaHPOHP:0001265
- 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.
- PIK3R5HGNC:30035
- Limited · PanelApp Australia · Autosomal recessive · 2025
- Disputed Evidence · ClinGen · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: ataxia with oculomotor apraxia type 3
- Also called
- ataxia-oculomotor apraxia 3ataxia-oculomotor apraxia type 3