COG6-CGD

Autosomal recessive

Neonatal

COG7-CDG

Autosomal recessive

Infancy, Neonatal

COG8-CDG

Autosomal recessive

Childhood

COL4A1/2-related familial vascular leukoencephalopathy

Autosomal dominant

COQ7-related distal hereditary motor neuropathy

Autosomal recessive

CPE-related Prader-Willi-like syndrome

Childhood, Infancy

CTCF-related neurodevelopmental disorder

Autosomal dominant

Antenatal, Childhood, Infancy, Neonatal

Calciphylaxis

Not applicable

Adult

Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy

Autosomal dominant

Calpain-3-related limb-girdle muscular dystrophy D4

Autosomal dominant

Adult

Calpain-3-related limb-girdle muscular dystrophy R1

Autosomal recessive

Adolescent, Adult, Childhood

Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome

Autosomal recessive

Childhood, Infancy, Neonatal

Camptodactyly-tall stature-scoliosis-hearing loss syndrome

Autosomal dominant, Autosomal recessive

Childhood

Canavan disease

Autosomal recessive

Childhood, Infancy, Neonatal

Cancer-associated retinopathy

Not applicable

Adult

Cap myopathy

Autosomal dominant

Childhood, Infancy, Neonatal

Cap polyposis

Not applicable

Adolescent, Adult, Childhood, Elderly

Capillary-lymphatic-venous malformation with segmental distribution

Multigenic/multifactorial, Not applicable

Infancy, Neonatal

Carbamoyl-phosphate synthetase 1 deficiency

Autosomal recessive

All ages

Carcinoma of esophagus, salivary gland type

Not applicable

Adult, Elderly

Carcinoma of the ampulla of Vater

Not applicable

Adult

Carcinosarcoma of the cervix uteri

Adult, Elderly

Cardiac-urogenital syndrome

Autosomal dominant

Cardiac-valvular Ehlers-Danlos syndrome

Autosomal recessive

Infancy, Neonatal