Mutations in 516 epileptic encephalopathies associated genes

Mutations in 496 neuromuscular disease associated genes

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

Mutations in 111 hereditary spastic paraplegia associated genes

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 1360 genes associated with chorea, dystonia and other movement disorders

Mutations in 2938 genes associated with childhood onset leukodystrophy

Mutations in 232 genes associated with leukodystrophy with brain calcifications

Mutations in 266 nuclear genes associated with mitochondrial diseases

Mutations in 288 arthrogryposis associated genes

Mutations in panel of 1012 genes

Mutations in 5227 genes associated with hereditary diseases

1 patient