Term Name: | Griscelli syndrome type 1 |
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Synonyms: | Griscelli syndrome with neurological impairment, Griscelli syndrome, cutaneous and neurological type, Griscelli-Prunieras syndrome type 1, GS1, hypopigmentation-neurologic impairment syndrome |
Definition: | A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2. |
Ontology: | Human Disease [DOID:0060832] ( DOID:0060832 ) |