Griscelli Syndrome Type 1
| Disease Aliases (16) | Griscelli syndrome with neurologic impairment Griscelli syndrome, cutaneous and neurologic type Gs1 Griscelli syndrome, type 1 Griscelli disease type 1 Griscelli syndrome with neurological impairment Griscelli syndrome, cutaneous and neurological type Griscelli syndrome, type 1; gs1 Griscelli-prunic)ras syndrome type 1 Griscelli-prunieras syndrome type 1 Griscelli-pruniéras syndrome type 1 Hypopigmentation - neurologic impairment Hypopigmentation-neurologic impairment syndrome Partial albinism and primary neurologic disease without hemophagocytic syndrome Pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts |
Associated Genes (1) NCBI-RefSeq: MYO5A (Myosin VA) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Griscelli syndrome type 1 | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |