| Disease ID | Source | Name | Description |
| 214450 | OMIM | Griscelli syndrome 1 (GS1) | Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hair and accumulation of melanosomes in melanocytes. GS1 patients show developmental delay, hypotonia and mental retardation, without apparent immune abnormalities. The disease is caused by variants affecting the gene represented in this entry. |
| 256710 | OMIM | Elejalde syndrome (ELEJAS) | Autosomal recessive condition characterized by skin hypopigmentation, the presence of large clumps of pigment in hair shafts, silvery-gray hair, accumulation of melanosomes in melanocytes and primary neurological abnormalities. Elejalde syndrome may be the same entity as Griscelli syndrome type I. The disease is caused by variants affecting the gene represented in this entry. |
| 609227 | OMIM | Griscelli syndrome 3 (GS3) | Rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations. The disease is caused by variants affecting the gene represented in this entry. |