CTCF-related neurodevelopmental disorder

Autosomal dominant

Antenatal, Childhood, Infancy, Neonatal

Caffey disease

Autosomal dominant, Unknown

Antenatal, Childhood, Infancy, Neonatal

Calciphylaxis

Not applicable

Adult

Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy

Autosomal dominant

Calpain-3-related limb-girdle muscular dystrophy D4

Autosomal dominant

Adult

Calpain-3-related limb-girdle muscular dystrophy R1

Autosomal recessive

Adolescent, Adult, Childhood

Calvarial doughnut lesions-bone fragility syndrome

Autosomal dominant

Childhood

Campomelia, Cumming type

Autosomal recessive

Antenatal, Neonatal

Campomelic dysplasia

Autosomal dominant

Antenatal, Neonatal

Camptobrachydactyly

Autosomal dominant

Neonatal

Camptodactyly syndrome, Guadalajara type 1

Autosomal recessive

Neonatal

Camptodactyly syndrome, Guadalajara type 2

Autosomal recessive

Neonatal

Camptodactyly syndrome, Guadalajara type 3

Neonatal

Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome

Autosomal recessive

Childhood, Infancy, Neonatal

Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome

Neonatal

Camptodactyly-joint contractures-facial skeletal defects syndrome

Autosomal dominant, Autosomal recessive

Neonatal

Camptodactyly-tall stature-scoliosis-hearing loss syndrome

Autosomal dominant, Autosomal recessive

Childhood

Camptodactyly-taurinuria syndrome

Autosomal dominant

Infancy

Camurati-Engelmann disease

Autosomal dominant

Adolescent, Adult, Childhood

Canavan disease

Autosomal recessive

Childhood, Infancy, Neonatal

Cancer-associated retinopathy

Not applicable

Adult

Cantú syndrome

Autosomal dominant, Not applicable

Neonatal

Cap myopathy

Autosomal dominant

Childhood, Infancy, Neonatal

Cap polyposis

Not applicable

Adolescent, Adult, Childhood, Elderly