Cardiomyopathy-cataract-hip spine disease syndrome

Autosomal recessive

Adolescent, Adult

Cardiomyopathy-hypotonia-lactic acidosis syndrome

Autosomal recessive

Neonatal

Caribbean parkinsonism

Adult, Elderly

Carney complex

Autosomal dominant

Infancy, Neonatal

Carney complex-trismus-pseudocamptodactyly syndrome

Not applicable

Neonatal

Carney triad

Adolescent, Adult

Carney-Stratakis syndrome

Autosomal dominant

Adolescent, Adult

Carnitine palmitoyl transferase 1A deficiency

Autosomal recessive

Infancy, Neonatal

Carnitine palmitoyltransferase II deficiency

Autosomal recessive

All ages

Carnitine-acylcarnitine translocase deficiency

Autosomal recessive

Infancy, Neonatal

Carotid web

Not applicable

Cartilage-hair hypoplasia

Autosomal recessive

Antenatal, Infancy, Neonatal

Carvajal syndrome

Autosomal dominant, Autosomal recessive

Childhood, Infancy, Neonatal

Castleman disease

Not applicable

All ages

Cat-scratch disease

Not applicable

All ages

Cataract-ataxia-deafness syndrome

Autosomal recessive

Neonatal

Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

Autosomal recessive

Childhood, Infancy

Catastrophic antiphospholipid syndrome

Not applicable

Adult

Catecholaminergic polymorphic ventricular tachycardia

Autosomal dominant, Autosomal recessive

Adolescent, Adult, Childhood

Cathepsin A-related arteriopathy-strokes-leukoencephalopathy

Autosomal dominant

Adult

Cavitary myiasis

Not applicable

All ages

Celiac artery compression syndrome

Not applicable

Adolescent, Adult, Childhood, Elderly

Celiac disease-epilepsy-cerebral calcification syndrome

Not applicable

Childhood

Central areolar choroidal dystrophy

Autosomal dominant

Adult