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ENElejalde Neuroectodermal Melanolysosomal Syndrome (ELEJAS)
Alias:
Neuroectodermal Melanolysosomal Disease
Elejalde Syndrome
Elejalde Disease
Elejas
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Elejalde Neuroectodermal Melanolysosomal Syndrome, also known as neuroectodermal melanolysosomal disease, is related to acrocephalopolydactylous dysplasia and griscelli syndrome, type 1. An important gene associated with Elejalde Neuroectodermal Melanolysosomal Syndrome is MYO5A (Myosin VA). Affiliated tissues include skin and eye, and related phenotypes are intellectual disability and seizure
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