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Neuroectodermal melanolysosomal disease

Disease definition

Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.


  • Synonym(s):
    • Elejalde disease
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Childhood
  • ICD-10: L81.4
  • OMIM: 256710
  • UMLS: C1860157
  • MeSH: C536203
  • GARD: -
  • MedDRA: -

Additional information

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