Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
central nervous system
melanosome transport |
| gptkbp:causedBy |
mutation in MYO5A gene
|
| gptkbp:complication |
immunodeficiency
recurrent infections neurological deterioration |
| gptkbp:diagnosedBy |
genetic testing
microscopic examination of hair |
| gptkbp:differentialDiagnosis |
Chediak-Higashi syndrome
Elejalde syndrome |
| gptkbp:firstDescribed |
1978
|
| https://www.w3.org/2000/01/rdf-schema#label |
Griscelli syndrome type 1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:namedAfter |
Claude Griscelli
|
| gptkbp:OMIM |
214450
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
muscle weakness
seizures developmental delay neurological impairment hypopigmentation |
| gptkbp:bfsParent |
gptkb:Griscelli_syndrome
|
| gptkbp:bfsLayer |
7
|