Preferred Label : Griscelli syndrome type 1;
ICD-11 definition : This syndrome is characterized by pigmentary dilution of hair and skin and primary
neurologic abnormalities resulted from mutations in MYO5A gene.;
ICD-11 synonym : GS1 - [Griscelli syndrome type 1]; Partial albinism with primary neurological impairment; GS1 - [Griscelli syndrome type 1] (MIM 214450);
ICD-11 acronym : GS1;
Origin ID : 875700770;
Currated CISMeF NLP mapping
- See also inter- (CISMeF)
This syndrome is characterized by pigmentary dilution of hair and skin and primary
neurologic abnormalities resulted from mutations in MYO5A gene.
