metachromatic leukodystrophy, late infantile form
MONDO:0017729Mondo
Findings
No curated finding names metachromatic leukodystrophy, late infantile form yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
36 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.
- ClumsinessHPOHP:0002312
- Frequent (30% to 79% of cases)
- Decreased nerve conduction velocityHPOHP:0000762
- Frequent (30% to 79% of cases)
- Developmental regressionHPOHP:0002376
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
- EMG: chronic denervation signsHPOHP:0003444
- Frequent (30% to 79% of cases)
- Frequent fallsHPOHP:0002359
- Frequent (30% to 79% of cases)
- Gait ataxiaHPOHP:0002066
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- HyporeflexiaHPOHP:0001265
- Frequent (30% to 79% of cases)
- Increased CSF protein concentrationHPOHP:0002922
- Frequent (30% to 79% of cases)
- LeukodystrophyHPOHP:0002415
- Frequent (30% to 79% of cases)
Show the remaining 24
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
- Optic atrophyHPOHP:0000648
- Frequent (30% to 79% of cases)
- Progressive gait ataxiaHPOHP:0007240
- Frequent (30% to 79% of cases)
- Progressive peripheral neuropathyHPOHP:0007133
- Frequent (30% to 79% of cases)
- Punctate periventricular T2 hyperintense fociHPOHP:0030081
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: metachromatic leukodystrophy, late infantile form
- Also called
- arylsulfatase A deficiency, late infantile formMLD, late infantile form