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.
MONDO:0018306
Griscelli syndrome
is_a
MONDO:0100545
hereditary neurological disease
is_a
GS1
exact
Griscelli syndrome type 1
exact
Griscelli syndrome, type 1
related
Griscelli-PruniC)ras syndrome type 1
exact
Griscelli-Pruniéras syndrome type 1
exact
hypopigmentation-neurologic impairment syndrome
exact
pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts
related
SPCC1919.10c SPBC2D10.14c