Childhood-onset benign chorea with striatal involvement

Autosomal dominant

Childhood

Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency

Autosomal recessive

Childhood-onset hypophosphatasia

Autosomal dominant, Autosomal recessive

Childhood, Infancy

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

Choanal atresia

Not applicable

Childhood, Infancy, Neonatal

Choanal atresia, bilateral

Not applicable

Infancy, Neonatal

Choanal atresia, unilateral

Not applicable

Infancy, Neonatal

Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Autosomal dominant

Neonatal

Cholangiocarcinoma

Not applicable

Adult

Choledochal cyst

All ages

Cholera

Not applicable

All ages

Cholestasis-lymphedema syndrome

Autosomal recessive

Infancy, Neonatal

Cholesteryl ester storage disease

Autosomal recessive

Adolescent, Adult, Childhood

Chondrodysplasia punctata, Toriello type

Autosomal recessive

Neonatal

Chondrodysplasia punctata, tibial-metacarpal type

Unknown

Antenatal, Neonatal

Chondrodysplasia with joint dislocations, gPAPP type

Autosomal recessive

Infancy, Neonatal

Chondrodysplasia-difference of sex development syndrome

Autosomal recessive

Antenatal, Neonatal

Chondroectodermal dysplasia with night blindness

Infancy, Neonatal

Chondromyxoid fibroma

Not applicable

Adolescent, Adult, Childhood, Elderly