Congenital disorder of glycosylation

Autosomal recessive, X-linked recessive

Infancy, Neonatal

Congenital hypogonadotropic hypogonadism

Autosomal dominant, Autosomal recessive, X-linked recessive

Infancy, Neonatal

Congenital hypothyroidism

Autosomal recessive

Antenatal, Neonatal

Congenital hypothyroidism due to developmental anomaly

Congenital muscular dystrophy

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Congenital myopathy

Congenital pericardium anomaly

Not applicable

All ages

Congenital secondary polycythemia

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Congenital urachal anomaly

Antenatal, Neonatal

Constitutional dyserythropoietic anemia

Infancy, Neonatal

Corneal dystrophy

Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable, X-linked recessive

All ages

Craniosynostosis

Autosomal dominant, Autosomal recessive, Not applicable, Unknown, X-linked recessive

Infancy, Neonatal

Dilated cardiomyopathy

All ages

Disorder of bile acid synthesis

All ages

Disorder of the gamma-glutamyl cycle

Autosomal recessive

Childhood, Infancy, Neonatal

Disorder of thiamine metabolism and transport

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Distal myopathy

Autosomal dominant, Autosomal recessive

All ages

Dysostosis with brachydactyly

Autosomal dominant, Autosomal recessive, X-linked recessive

Infancy, Neonatal

Ectodermal dysplasia syndrome

Infancy, Neonatal

Embryonal tumor of neuroepithelial tissue

Extragonadal germ cell tumor

FGFR3-related chondrodysplasia

Filariasis

Not applicable

All ages

Focal, segmental or multifocal dystonia

Autosomal dominant

Adult