Carcinoma of gallbladder and extrahepatic biliary tract

Not applicable

Adult

Central congenital hypothyroidism

Central nervous system embryonal tumor

Not applicable

Childhood

Centronuclear myopathy

Autosomal dominant, Autosomal recessive, X-linked recessive

Adolescent, Adult, Childhood, Infancy, Neonatal

Cephalocele

Cerebral cortical dysplasia

Charcot-Marie-Tooth disease type 1

Autosomal dominant

Adolescent, Adult, Childhood, Infancy

Charcot-Marie-Tooth disease type 4

Autosomal recessive

Childhood, Infancy

Choroid plexus tumor

Chronic cutaneous lupus erythematosus

Multigenic/multifactorial

Adolescent, Adult, Childhood, Elderly

Cleft lip with or without cleft palate

Cleft palate

Multigenic/multifactorial, Not applicable

Antenatal, Neonatal

Cobblestone lissencephaly

Autosomal recessive

Infancy, Neonatal

Coenzyme Q10 deficiency

Autosomal recessive

All ages

Cold-induced sweating syndrome-hyperthermia spectrum

Autosomal recessive

Congenital adrenal hyperplasia

Autosomal recessive

Congenital dyserythropoietic anemia

Autosomal dominant, Autosomal recessive, X-linked recessive

Childhood

Congenital isolated hyperinsulinism

Autosomal dominant, Autosomal recessive

Childhood, Infancy, Neonatal

Congenital long QT syndrome

Autosomal dominant, Autosomal recessive

Adolescent, Adult, Childhood

Congenital myotonia

Congenital pulmonary veins atresia or stenosis

Not applicable

Childhood

Congenital stationary night blindness

Autosomal dominant, Autosomal recessive, X-linked recessive

Neonatal

Creatine deficiency syndrome

Autosomal recessive, Not applicable, X-linked recessive

Childhood, Infancy

Cutaneous mastocytosis

Not applicable

Childhood