Human genes for French Canadian Leigh disease
French Canadian Leigh disease [DOID:0111180]
A Leigh disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of leasions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21.
Synonyms: French Canadian Leigh disease, DOID:0111180, French Canadian Leigh disorder, French Canadian Leigh syndrome, French Canadian Leigh diseases ...