neuroectodermal melanolysosomal disease
Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin color in sun-exposed areas and severe neurological impairment.
MONDO:0005328
eye disorder
excluded_subClassOf
MONDO:0019289
hyperpigmentation of the skin
excluded_subClassOf
MONDO:0019716
overgrowth syndrome
excluded_subClassOf
MONDO:0003847
hereditary disease
is_a
Elejalde disease
exact
neuroectodermal melanolysosomal disease
exact