early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
MONDO:0044651Mondo
Findings
No curated finding names early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
22 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.
- Distal amyotrophyHPOHP:0003693
- Very frequent (80% to 99% of cases)
- Progressive encephalopathyHPOHP:0002448
- Very frequent (80% to 99% of cases)
- Spastic ataxiaHPOHP:0002497
- Very frequent (80% to 99% of cases)
- Spinal muscular atrophyHPOHP:0007269
- Very frequent (80% to 99% of cases)
- Cerebellar atrophyHPOHP:0001272
- Frequent (30% to 79% of cases)
- Developmental regressionHPOHP:0002376
- Frequent (30% to 79% of cases)
- Difficulty standingHPOHP:0003698
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- EMG: chronic denervation signsHPOHP:0003444
- Frequent (30% to 79% of cases)
- Foot dorsiflexor weaknessHPOHP:0009027
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
Reported absent (2)
- Growth delayHPOHP:0001510
- HypoparathyroidismHPOHP:0000829
Show the remaining 10
- Hypoplasia of the corpus callosumHPOHP:0002079
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Peripheral axonal neuropathyHPOHP:0003477
- Frequent (30% to 79% of cases)
- AnarthriaHPOHP:0002425
- Occasional (5% to 29% of cases)
- Iron accumulation in substantia nigraHPOHP:0012678
- Occasional (5% to 29% of cases)
- Optic atrophyHPOHP:0000648
- Occasional (5% to 29% of cases)