spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
MONDO:0019132Mondo
Findings
No curated finding names spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
7 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.
- CataractHPOHP:0000518
- Very frequent (80% to 99% of cases)
- Cerebellar vermis hypoplasiaHPOHP:0001320
- Very frequent (80% to 99% of cases)
- Dandy-Walker malformationHPOHP:0001305
- Very frequent (80% to 99% of cases)
- Distal lower limb amyotrophyHPOHP:0008944
- Very frequent (80% to 99% of cases)
- Distal muscle weaknessHPOHP:0002460
- Very frequent (80% to 99% of cases)
- EMG: chronic denervation signsHPOHP:0003444
- Very frequent (80% to 99% of cases)
- Enlarged cisterna magnaHPOHP:0002280
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of