Cystic fibrosis

Autosomal recessive

All ages

Cystic fibrosis-gastritis-megaloblastic anemia syndrome

Autosomal recessive

Infancy

Cystic hamartoma of lung and kidney

Unknown

Infancy

Cystic leukoencephalopathy without megalencephaly

Autosomal recessive

Infancy, Neonatal

Cysticercosis

Not applicable

All ages

Cystinosis

Autosomal recessive

Adolescent, Adult, Childhood, Infancy

Cystinuria

Autosomal recessive, Semi-dominant

All ages

Cystoid macular dystrophy

Autosomal dominant

Childhood

Cytophagic histiocytic panniculitis

Unknown

Adult

Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder

Autosomal recessive

Childhood

D,L-2-hydroxyglutaric aciduria

Autosomal recessive

Infancy, Neonatal

D-2-hydroxyglutaric aciduria

Autosomal dominant, Autosomal recessive

Childhood, Infancy, Neonatal

D-glyceric aciduria

Autosomal recessive

All ages

DDOST-CDG

Autosomal recessive

Infancy, Neonatal

DDX41-related hematologic malignancy predisposition syndrome

Multigenic/multifactorial

Adult, Elderly

DEND syndrome

Autosomal dominant, Autosomal recessive, Not applicable

Infancy, Neonatal

DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

Autosomal dominant

Childhood, Infancy, Neonatal

DICER1 tumor-predisposition syndrome

Autosomal dominant

Adolescent, Adult, Childhood

DITRA

Autosomal recessive

All ages

DK1-CDG

Autosomal recessive

Infancy, Neonatal

DNA2-related mitochondrial DNA deletion syndrome

Autosomal dominant

All ages

DNAJB2-related Charcot-Marie-Tooth disease type 2

Autosomal recessive

Adult

DNAJB4-related distal myopathy

Autosomal dominant

DNAJB6-related distal myopathy

Autosomal dominant