spastic ataxia-corneal dystrophy syndrome
MONDO:0010064Mondo
Findings
No curated finding names spastic ataxia-corneal dystrophy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mousa-AlDin-AlNassar syndrome is characterized by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia.
Definition from the Mondo Disease Ontology (MONDO:0010064), read 2026-09-29. CC BY 4.0.
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
- Very frequent (80% to 99% of cases)
- Corneal dystrophyHPOHP:0001131
- Very frequent (80% to 99% of cases)
- Developmental cataractHPOHP:0000519
- Very frequent (80% to 99% of cases)
- MyopiaHPOHP:0000545
- Very frequent (80% to 99% of cases)
- Spastic ataxiaHPOHP:0002497
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the cerebellumHPOHP:0007360
- Frequent (30% to 79% of cases)
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- Frequent (30% to 79% of cases)
- EMG abnormalityHPOHP:0003457
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Hemiplegia/hemiparesisHPOHP:0004374
- Frequent (30% to 79% of cases)
- Optic atrophyHPOHP:0000648
- Frequent (30% to 79% of cases)
- Spinocerebellar tract degenerationHPOHP:0002503
- Frequent (30% to 79% of cases)
Where it sits
Other names
3 names
Resolves to: spastic ataxia-corneal dystrophy syndrome
- Also called
- Bedouin spastic ataxia syndromeMousa-Al Din-Al Nassar syndromespastic ataxia-ocular anomalies syndrome