Neuroectodermal melanolysosomal disease

Definition

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

Disease data

Classification

Malformation syndrome

Synonyms

Elejalde disease

Choroba Elejalde

ORPHA code

33445

OMIM code

256710

ICD10 code

L81.4

ICD11 code

*Soruce

No additional description.

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Description of the disease *