neuroectodermal melanolysosomal disease
MONDO:0009742Mondo
Findings
No curated finding names neuroectodermal melanolysosomal disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin color in sun-exposed areas and severe neurological impairment.
Definition from the Mondo Disease Ontology (MONDO:0009742), read 2026-09-29. CC BY 4.0.
Features
29 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.
- Abnormality of movementHPOHP:0100022
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Hypopigmentation of hairHPOHP:0005599
- Very frequent (80% to 99% of cases)
- Hypopigmentation of the skinHPOHP:0001010
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Premature graying of hairHPOHP:0002216
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Specific learning disabilityHPOHP:0001328
- Very frequent (80% to 99% of cases)
- MyopiaHPOHP:0000545
- Frequent (30% to 79% of cases)
- TremorHPOHP:0001337
- Frequent (30% to 79% of cases)
- Abnormal cerebellar vermis morphologyHPOHP:0002334
- Occasional (5% to 29% of cases)
Show the remaining 17
- Abnormal optic nerve morphologyHPOHP:0000587
- Occasional (5% to 29% of cases)
- Aplasia/Hypoplasia of the maculaHPOHP:0008059
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Occasional (5% to 29% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Occasional (5% to 29% of cases)
- Cerebral cortical hemiatrophyHPOHP:0100308
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: neuroectodermal melanolysosomal disease
- Also called
- Elejalde disease