Combined oxidative phosphorylation defect type 30

Autosomal recessive

Neonatal

Combined oxidative phosphorylation defect type 39

Autosomal recessive

Antenatal, Infancy, Neonatal

Combined oxidative phosphorylation defect type 4

Autosomal recessive

Neonatal

Combined oxidative phosphorylation defect type 7

Autosomal recessive

Childhood, Infancy

Combined oxidative phosphorylation defect type 8

Autosomal recessive

Infancy, Neonatal

Combined oxidative phosphorylation defect type 9

Autosomal recessive

Infancy

Combined pancreatic lipase-colipase deficiency

Neonatal

Combined pituitary hormone deficiencies, genetic forms

Autosomal dominant, Autosomal recessive, X-linked recessive

Infancy, Neonatal

Combined pulmonary fibrosis-emphysema syndrome

Not applicable

Adult

Common variable immunodeficiency phenotype due to CD19/CD81 deficiency

Autosomal recessive

Common variable immunodeficiency phenotype due to CD21 deficiency

Autosomal recessive

Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency

Autosomal dominant

Adolescent, Adult, Childhood, Infancy, Neonatal

Common variable immunodeficiency phenotype due to IRF2BP2 deficiency

Autosomal dominant

Common variable immunodeficiency phenotype due to SEC61A1 deficiency

Autosomal dominant

Common variable immunodeficiency phenotype due to TWEAK deficiency

Autosomal dominant

Common variable immunodeficiency phenotype due to homozygous TACI deficiency

Autosomal recessive

Complement component 3 deficiency

Autosomal recessive

Childhood

Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome

Autosomal recessive

Childhood, Infancy

Complete androgen insensitivity syndrome

X-linked recessive

All ages

Complex regional pain syndrome

Not applicable

All ages

Composite hemangioendothelioma

Not applicable

All ages

Composite lymphoma

Adult, Elderly

Cone dystrophy with supernormal rod response

Autosomal recessive

Adolescent, Adult, Childhood

Cone rod dystrophy

Autosomal dominant, Autosomal recessive, X-linked recessive

Adolescent, Adult, Childhood