Congenital syphilis

Not applicable

Antenatal, Neonatal

Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency

Autosomal recessive

Congenital toxoplasmosis

Not applicable

Antenatal, Infancy, Neonatal

Congenital trigeminal anesthesia

Not applicable

Infancy, Neonatal

Congenital trochlear nerve palsy

Not applicable

Neonatal

Congenital tufting enteropathy

Autosomal recessive

Infancy, Neonatal

Congenital varicella syndrome

Not applicable

Antenatal, Neonatal

Conjunctival malignant melanoma

Connective tissue disorder due to lysyl hydroxylase-3 deficiency

Not applicable

Antenatal, Neonatal

Constitutional megaloblastic anemia with severe neurologic disease

Autosomal recessive

Childhood, Infancy

Constitutional mismatch repair deficiency syndrome

Autosomal recessive

Childhood

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome

Autosomal dominant

All ages

Corpus callosum agenesis-neuronopathy syndrome

Autosomal recessive

Antenatal, Neonatal

Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

Autosomal dominant

Infancy, Neonatal

Corticobasal syndrome

Adult, Elderly

Corticosteroid-binding globulin deficiency

Semi-dominant

Adult

Coxopodopatellar syndrome

Autosomal dominant

Infancy, Neonatal

Cramp-fasciculation syndrome

Autosomal dominant

Adult

Cranio-cervical dystonia with laryngeal and upper-limb involvement

Autosomal dominant

Adolescent, Adult, Childhood

Craniofaciofrontodigital syndrome

Unknown

Neonatal

Craniopharyngioma

Not applicable

All ages

Creeping myiasis

Not applicable

Crigler-Najjar syndrome

Autosomal recessive

Infancy, Neonatal

Crimean-Congo hemorrhagic fever

All ages