Benign recurrent intrahepatic cholestasis type 1

Autosomal recessive

Benign recurrent intrahepatic cholestasis type 2

Autosomal recessive

Bilateral frontal polymicrogyria

Antenatal, Infancy, Neonatal

Bilateral frontoparietal polymicrogyria

Autosomal recessive

Antenatal, Infancy, Neonatal

Bilateral generalized polymicrogyria

Autosomal dominant

Antenatal, Infancy, Neonatal

Bilateral multicystic dysplastic kidney

Autosomal dominant

Antenatal, Neonatal

Bilateral parasagittal parieto-occipital polymicrogyria

Autosomal recessive

Antenatal, Infancy, Neonatal

Bilateral perisylvian polymicrogyria

Autosomal recessive

Antenatal, Infancy, Neonatal

Bleeding disorder in hemophilia A carriers

X-linked recessive

All ages

Bleeding disorder in hemophilia B carriers

X-linked recessive

Blepharophimosis-ptosis-epicanthus inversus syndrome type 1

Autosomal recessive

Antenatal

Blepharophimosis-ptosis-epicanthus inversus syndrome type 2

Autosomal dominant

Antenatal

Brachydactyly type B1

Autosomal dominant

Antenatal

Brachydactyly type B2

Autosomal dominant

Neonatal

Bullous diffuse cutaneous mastocytosis

Not applicable

Infancy, Neonatal

Bullous pyoderma gangrenosum

Multigenic/multifactorial

Adolescent, Adult, Childhood, Elderly

C3 glomerulopathy

Multigenic/multifactorial

All ages

COFS syndrome

Autosomal recessive

Antenatal, Neonatal

Carnitine palmitoyl transferase II deficiency, myopathic form

Autosomal recessive

Adolescent, Adult, Childhood, Infancy

Carnitine palmitoyl transferase II deficiency, neonatal form

Autosomal recessive

Neonatal

Carnitine palmitoyl transferase II deficiency, severe infantile form

Autosomal recessive

Infancy, Neonatal

Cerulean cataract

Autosomal dominant

Childhood

Childhood-onset Steinert myotonic dystrophy

Autosomal dominant

Childhood, Infancy

Childhood-onset hypophosphatasia

Autosomal dominant, Autosomal recessive

Childhood, Infancy