Combined immunodeficiency due to ORAI1 deficiency

Autosomal recessive

Infancy, Neonatal

Combined immunodeficiency due to STIM1 deficiency

Autosomal recessive

Infancy, Neonatal

Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency

Common arterial trunk with aortic dominance

Common arterial trunk with pulmonary dominance and interrupted aortic arch

Complete atrioventricular septal defect with ventricular hypoplasia

Autosomal dominant

Complete atrioventricular septal defect without ventricular hypoplasia

Complete atrioventricular septal defect-tetralogy of Fallot

Autosomal dominant, Not applicable

Complete congenital stationary night blindness, Schubert-Bornschein type

Complete cryptophthalmia

Antenatal, Neonatal

Complete hydatidiform mole

Autosomal recessive, Not applicable

Adult

Complex regional pain syndrome type 1

All ages

Complex regional pain syndrome type 2

All ages

Congenital CLN10 disease

Autosomal recessive

Congenital communicating hydrocephalus

Autosomal recessive

Congenital generalized lipodystrophy type 4

Autosomal recessive

Congenital generalized hypertrichosis, Ambras type

Unknown

Neonatal

Congenital generalized lipodystrophy type 1

Autosomal recessive

Congenital generalized lipodystrophy type 2

Autosomal recessive

Congenital generalized lipodystrophy type 3

Autosomal recessive

Congenital multicore myopathy with external ophthalmoplegia

Autosomal recessive

Infancy, Neonatal

Congenital non-communicating hydrocephalus

Autosomal recessive

Congenital or early infantile CACH syndrome

Autosomal recessive

Infancy, Neonatal

Congenital primary megaureter, nonrefluxing and unobstructed form

Unknown

Infancy, Neonatal