Bullous impetigo

Not applicable

All ages

Bullous lichen planus

Autosomal dominant, Not applicable

Childhood

Bullous pemphigoid

Not applicable

All ages

Burkitt lymphoma

Not applicable

All ages

Burning mouth syndrome

Adult

Butterfly-shaped pigment dystrophy

Autosomal dominant

Adult

C11ORF73-related autosomal recessive hypomyelinating leukodystrophy

Autosomal recessive

Infancy

CACH syndrome

Autosomal recessive

Childhood

CAD-CDG

Autosomal recessive

Infancy

CADDS

X-linked recessive

Infancy, Neonatal

CADINS disease

Autosomal dominant

CANOMAD syndrome

Adult, Elderly

CARD8-related inflammatory bowel disease

Autosomal dominant

CCDC115-CDG

Autosomal recessive

Infancy, Neonatal

CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome

Autosomal dominant

Neonatal

CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome

Autosomal dominant

Childhood, Infancy

CDKL5-deficiency disorder

X-linked dominant

Infancy, Neonatal

CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

Autosomal recessive

Adolescent, Neonatal

CEDNIK syndrome

Autosomal recessive

Infancy, Neonatal

CELSR1-related late-onset primary lymphedema

Autosomal dominant

Adolescent, Childhood, Infancy, Neonatal

CHD4-related neurodevelopmental disorder

Autosomal dominant

Childhood, Infancy

CHD8 overgrowth syndrome

Autosomal dominant

No data available

CHILD syndrome

X-linked dominant

Antenatal, Infancy, Neonatal

CHST3-related skeletal dysplasia

Autosomal recessive

Antenatal, Neonatal