Beta-ureidopropionase deficiency

Autosomal recessive

Infancy, Neonatal

Bethlem muscular dystrophy

Autosomal dominant, Autosomal recessive

Childhood, Infancy

Bickerstaff brainstem encephalitis

Not applicable

All ages

Biemond syndrome type 2

Unknown

Antenatal, Neonatal

Bietti crystalline dystrophy

Autosomal recessive

Adolescent, Adult

Bifunctional enzyme deficiency

Autosomal recessive

Infancy

Bilateral acute depigmentation of the iris

Unknown

Adult

Bilateral striopallidodentate calcinosis

Autosomal dominant, Autosomal recessive, Not applicable

Adult

Bile acid CoA ligase deficiency and defective amidation

Unknown

Infancy, Neonatal

Biliary cystadenocarcinoma

Not applicable

Adult

Biotin-thiamine-responsive basal ganglia disease

Autosomal recessive

Adult, Childhood, Infancy

Biotinidase deficiency

Autosomal recessive

Adolescent, Adult, Childhood, Infancy, Neonatal

Birdshot chorioretinopathy

Unknown

Adult, Elderly

Birk-Barel syndrome

Autosomal dominant

Infancy

Björnstad syndrome

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Blastic plasmacytoid dendritic cell neoplasm

Not applicable

Elderly

Blau syndrome

Autosomal dominant, Not applicable

Infancy, Neonatal

Bleeding diathesis due to a collagen receptor defect

Autosomal dominant, Autosomal recessive

All ages

Bleeding diathesis due to thromboxane synthesis deficiency

Bleeding disorder due to CalDAG-GEFI deficiency

Autosomal recessive

Infancy

Bleeding disorder due to P2Y12 defect

Autosomal recessive

Childhood

Blepharoptosis-myopia-ectopia lentis syndrome

Autosomal dominant

Childhood

Blepharospasm-oromandibular dystonia syndrome

Adult, Elderly

Bloom syndrome

Autosomal recessive

Antenatal, Neonatal