Griscelli syndrome type 1 (Q5358728)
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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.
- GS1
- Griscelli syndrome with neurological impairment
- Griscelli syndrome, cutaneous and neurological type
- Griscelli-Pruniéras syndrome type 1
- hypopigmentation-neurologic impairment syndrome
- Griscelli-Pruni��ras syndrome type 1
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Griscelli syndrome type 1 |
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. |
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Wikipedia(4 entries)
- arwiki متلازمة إليخالدي
- dewiki Neuroektodermale melanolysosomale Krankheit
- enwiki Elejalde syndrome
- plwiki Zespół Elejalde