Benign recurrent intrahepatic cholestasis type 1

Autosomal recessive

Benign recurrent intrahepatic cholestasis type 2

Autosomal recessive

Benign schwannoma

Not applicable

Adult, Elderly

Bernard-Soulier syndrome

Autosomal dominant, Autosomal recessive

All ages

Best vitelliform macular dystrophy

Autosomal dominant

Adolescent, Childhood

Beta-ketothiolase deficiency

Autosomal recessive

Childhood, Infancy, Neonatal

Beta-mannosidosis

Autosomal recessive

Adolescent, Adult, Childhood, Infancy, Neonatal

Beta-mercaptolactate cysteine disulfiduria

No data available

Beta-propeller protein-associated neurodegeneration

X-linked dominant

Childhood

Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

Autosomal recessive

Adolescent, Childhood

Beta-thalassemia

Autosomal dominant, Autosomal recessive

Childhood, Infancy

Beta-thalassemia associated with another hemoglobin anomaly

Autosomal dominant, Autosomal recessive

All ages

Beta-thalassemia intermedia

Autosomal recessive

Childhood

Beta-thalassemia major

Autosomal recessive

Infancy, Neonatal

Beta-thalassemia-X-linked thrombocytopenia syndrome

X-linked recessive

No data available

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

Bifid nose

Autosomal dominant, Autosomal recessive

Antenatal, Neonatal

Bifid uvula

Multigenic/multifactorial, Not applicable

Infancy, Neonatal

Bifunctional enzyme deficiency

Autosomal recessive

Infancy

Bilateral acute depigmentation of the iris

Unknown

Adult