VPS13A-related neurodegenerative disease
A form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances, and caused by a variation in the VPS13A gene.
MONDO:0016987
neuroacanthocytosis
is_a
MONDO:0019268
epidermal disease
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
MONDO:0100118
hereditary skin disorder
is_a
CHAC
exact
Chac
exact
Levine-Critchley syndrome
exact
VPS13A disease
exact
chorea-acanthocytosis
exact
choreoacanthocytosis
exact
SPBC21C3.01c SPBC16C6.02c