Childhood absence epilepsy

Autosomal dominant

Adolescent, Childhood

Childhood disintegrative disorder

Not applicable

Childhood

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Autosomal recessive

Infancy, Neonatal

Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

Autosomal recessive

Childhood

Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

Autosomal recessive

Childhood

Childhood-onset basal ganglia degeneration syndrome

Autosomal recessive

Childhood, Infancy

Childhood-onset benign chorea with striatal involvement

Autosomal dominant

Childhood

Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency

Autosomal recessive

Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

Autosomal dominant

Childhood

Childhood-onset nemaline myopathy

Autosomal dominant

Childhood

Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome

Autosomal recessive

Childhood

Childhood-onset schizophrenia

Adolescent, Childhood

Childhood-onset spasticity with hyperglycinemia

Autosomal recessive

Childhood

Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome

Autosomal recessive

Cholangiocarcinoma

Not applicable

Adult

Cholera

Not applicable

All ages

Cholestasis-lymphedema syndrome

Autosomal recessive

Infancy, Neonatal

Chondroectodermal dysplasia with night blindness

Infancy, Neonatal

Chondromyxoid fibroma

Not applicable

Adolescent, Adult, Childhood, Elderly

Chondrosarcoma

Not applicable, Unknown

Adult

Chordoid glioma

Adult

Chordoma

Autosomal dominant, Not applicable

Adult

Choreoacanthocytosis

Autosomal recessive

Adult

Choroid plexus carcinoma

Autosomal dominant

Childhood