corneal-cerebellar syndrome
Findings
No curated finding names corneal-cerebellar syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.
Definition from the Mondo Disease Ontology (MONDO:0010063), read 2026-09-29. CC BY 4.0.
Features
9 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
- Frequent (30% to 79% of cases)
- Corneal dystrophyHPOHP:0001131
- Frequent (30% to 79% of cases)
- Corneal opacityHPOHP:0007957
- Frequent (30% to 79% of cases)
- Dorsal column degenerationHPOHP:0007006
- Frequent (30% to 79% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Frequent (30% to 79% of cases)
- Progressive cerebellar ataxiaHPOHP:0002073
- Frequent (30% to 79% of cases)
- Spinocerebellar tract degeneration
Where it sits
Other names
2 names
Resolves to: corneal-cerebellar syndrome
- Also called
- Der Kaloustian-Jarudi-Khoury syndromespinocerebellar degeneration-corneal dystrophy syndrome