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中文Elejalde Neuroectodermal Melanolysosomal Syndrome (ELEJAS)
Alias:
Neuroectodermal Melanolysosomal Disease
Elejalde Syndrome
Elejalde Disease
Elejas
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Elejalde 神经外胚层黑素体溶酶体病，又称神经外胚层黑素体病，与颅面多指症和 Griscelli 综合征 1 型有关。与 Elejalde 神经外胚层黑素体溶酶体病相关的重要基因是 MYO5A（肌球蛋白 VA）。相关组织包括皮肤和眼睛，相关表型为智力障碍和癫痫
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MALACARDS
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