Griscelli syndrome type 1

Term ID

DOID:0060832

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. (2)

References

• GARD:2566
• MESH:C537301
• OMIM:214450
• ORDO:79476
• SNOMEDCT_US_2023_03_01:1254946006
• UMLS_CUI:C1859194

Ontology

Human Disease   ( DOID:0060832 )