ataxia - oculomotor apraxia type 4
Findings
No curated finding names ataxia - oculomotor apraxia type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene.
Definition from the Mondo Disease Ontology (MONDO:0014557), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Rapidly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
29 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.
- AreflexiaHPOHP:0001284
- 11 of 11 reported patients
- AtaxiaHPOHP:0001251
- 11 of 11 reported patients
- Obligate (100% of cases)
- Cerebellar atrophyHPOHP:0001272
- 11 of 11 reported patients
- Oculomotor apraxiaHPOHP:0000657
- 11 of 11 reported patients
- Frequent (30% to 79% of cases)
- Peripheral neuropathyHPOHP:0009830
- 11 of 11 reported patients
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- 8 of 11 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 17
- Abnormal saccadic eye movementsHPOHP:0000570
- Occasional (5% to 29% of cases)
- Abnormal toe morphologyHPOHP:0001780
- Occasional (5% to 29% of cases)
- Distal lower limb muscle weaknessHPOHP:0009053
- Occasional (5% to 29% of cases)
- DysarthriaHPOHP:0001260
- Occasional (5% to 29% of cases)
- DyscalculiaHPOHP:0002442
- Occasional (5% to 29% of cases)
- DyslexiaHPOHP:0010522
- Occasional (5% to 29% of cases)
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.
- PNKPHGNC:9154
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: ataxia - oculomotor apraxia type 4
- Also called
- AOA4oculomotor apraxia or related oculomotor disease caused by mutation in PNKPPNKP oculomotor apraxia or related oculomotor disease