Partial albinism (Q83801)
From determinar.ia.br - Determine suas informações
Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair (silver hair), the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. It may be associated with neurological (type 1) or haematological (type 2) abnormalities.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1881966012 |
||
| English | Partial albinism |
Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair (silver hair), the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. It may be associated with neurological (type 1) or haematological (type 2) abnormalities. |
Statements
CID11:ID_1881966012
0 references
dki-india-ID_1881966012
0 references
Concluído
0 references
13 August 2026
0 references
