DISEASES

Disease-gene associations mined from literature

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 ...