Choanal atresia, bilateral

Not applicable

Infancy, Neonatal

Choanal atresia, unilateral

Not applicable

Infancy, Neonatal

Cholesteryl ester storage disease

Autosomal recessive

Adolescent, Adult, Childhood

Chronic endophthalmitis

Not applicable

All ages

Chronic graft versus host disease

All ages

Chronic mast cell leukemia

Not applicable

Classic bladder exstrophy

Multigenic/multifactorial

Infancy, Neonatal

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form

Autosomal recessive

Infancy, Neonatal

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form

Autosomal recessive

Infancy, Neonatal

Classic congenital lipoid adrenal hyperplasia due to STAR deficency

Autosomal recessive

Classic maple syrup urine disease

Autosomal recessive

Neonatal

Classic multiminicore myopathy

Autosomal recessive

Infancy, Neonatal

Classic neuroendocrine tumor of appendix

Not applicable

All ages

Classic pantothenate kinase-associated neurodegeneration

Autosomal recessive

Infancy, Neonatal

Classic progressive supranuclear palsy syndrome

Not applicable

Adult

Classic pyoderma gangrenosum

Multigenic/multifactorial

Adolescent, Adult, Childhood, Elderly

Classic stiff person syndrome

Not applicable

Adult

Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion

Not applicable, Unknown

Infancy, Neonatal

Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation

Autosomal dominant

Cloacal exstrophy

Multigenic/multifactorial

Infancy, Neonatal

Closed iniencephaly

Multigenic/multifactorial, Not applicable

Infancy, Neonatal

Cockayne syndrome type 1

Autosomal recessive

Antenatal, Infancy, Neonatal

Cockayne syndrome type 2

Autosomal recessive

Antenatal, Infancy, Neonatal

Cockayne syndrome type 3

Autosomal recessive

Antenatal, Infancy, Neonatal