benign paroxysmal tonic upgaze of childhood with ataxia
Findings
No curated finding names benign paroxysmal tonic upgaze of childhood with ataxia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.
Definition from the Mondo Disease Ontology (MONDO:0008206), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
20 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.
- ApneaHPOHP:0002104
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
- 4 of 4 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 9 of 9 reported patients
- Motor delayHPOHP:0001270
- 9 of 9 reported patients
- Pendular nystagmusHPOHP:0012043
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.
- DAGLAHGNC:1165
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: benign paroxysmal tonic upgaze of childhood with ataxia
- Also called
- neuroocular syndrome 2, paroxysmal typeOuvrier-Billson syndrome