Disease List
- CADASIL
- Campomelic dysplasia
- Canavan disease
- CARASIL
- Cardio-facial-cutaneous syndrome - See Cardiofaciocutaneous syndrome
- Cardio-facio-cutaneous syndrome - See Cardiofaciocutaneous syndrome
- Cardiofaciocutaneous syndrome
- Cardiovertebral syndrome - See Alagille syndrome
- Cartilage-hair hypoplasia
- Catecholaminergic polymorphic ventricular tachycardia
- CDKL5 deficiency disorder
- CDKL5 encephalopathy - See CDKL5 deficiency disorder
- Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
- Cerebral sclerosis - See Adrenoleukodystrophy
- Cerebrotendinous xanthomatosis
- Ceroid lipofuscinosis, neuronal, 1
- CFC - See Cardiofaciocutaneous syndrome
- CFC syndrome - See Cardiofaciocutaneous syndrome
- CFCS - See Cardiofaciocutaneous syndrome
- Charcot-Marie-Tooth disease
- CHARGE syndrome
- CHI - See Congenital isolated hyperinsulinism
- Choroideremia
- Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb
- Chromosome 17p13.3 deletion syndrome - See Miller-Dieker lissencephaly syndrome
- Chromosome 1p36 deletion syndrome
- Chromosome 22q11.2 duplication syndrome
- Chromosome 22q13.3 Deletion Syndrome - See Phelan-mcdermid syndrome
- Cleft nose - See Bifid nose
- Clouston syndrome
- CMDI - See Campomelic dysplasia
- colonic aganglionosis - See Hirschsprung disease
- Complete molar pregnancy - See Hydatidiform mole
- Congenital Adrenal Hyperplasia
- Congenital adrenal hyperplasia, due to 17-alpha-hydroxylase deficiency
- Congenital disorder of glycosylation, type ia
- Congenital disorder of glycosylation, type ib
- Congenital insensitivity to pain
- Congenital isolated hyperinsulinism
- congenital megacolon - See Hirschsprung disease
- Congenital toxoplasmosis
- Congenital Universal Muscular Hypoplasia of Krabbe
- Cori disease - See Glycogen storage disease type III
- Cornelia de Lange syndrome
- Cowden syndrome
- Cri-du-chat syndrome
- Crouzon syndrome
- CTX - See Cerebrotendinous xanthomatosis
- cutis laxa
- Cystic fibrosis
- Cystinosis
