Mutations in 2981 genes, associated with genetic diseases of the CNS and peripheral neuropathies in childhood

Mutations in 661 genes associated with ataxia and syndromes and diseases, which include symptoms of ataxia

Mutations in 3123 genes associated with intellectual deficit and neuropsychiatric retardation

Mutations in 1131 autistic associated genes

Mutations in 1360 genes associated with chorea, dystonia and other movement disorders

Mutations in 2938 genes associated with childhood onset leukodystrophy

Mutations in 341 genes, associated with Retinitis pigmentosa

Mutations in 341 genes assotiated with retinal degeneration

Mutations in 5227 genes associated with hereditary diseases