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 1360 genes associated with chorea, dystonia and other movement disorders

Mutations in 2938 genes associated with childhood onset leukodystrophy

Mutations in 810 genes associated with endocrine diseases

Mutations in 5227 genes associated with hereditary diseases

Sequencing of 19 396 RefSeq genes. Read depth: mean coverage >= 50X, guaranteed 85% of bases with quality score >=Q30

1 patient