Vestibular schwannoma

Vitamin B12-responsive methylmalonic acidemia type cblA

Autosomal recessive

Childhood

Vitamin B12-responsive methylmalonic acidemia type cblB

Autosomal recessive

Childhood

Vitamin B12-responsive methylmalonic acidemia, type cblDv2

Autosomal recessive

Vitamin B12-unresponsive methylmalonic acidemia type mut-

Autosomal recessive

Infancy, Neonatal

Vitamin B12-unresponsive methylmalonic acidemia type mut0

Autosomal recessive

Infancy, Neonatal

Von Willebrand disease type 1

Autosomal dominant

All ages

Von Willebrand disease type 2

Autosomal dominant, Autosomal recessive

All ages

Von Willebrand disease type 2A

Autosomal dominant, Autosomal recessive

Von Willebrand disease type 2B

Autosomal dominant

Von Willebrand disease type 2M

Autosomal dominant

Von Willebrand disease type 2N

Autosomal recessive

Von Willebrand disease type 3

Autosomal recessive

Infancy, Neonatal

Waardenburg syndrome type 1

Autosomal dominant

Neonatal

Waardenburg syndrome type 2

Autosomal dominant

Neonatal

Waardenburg syndrome type 3

Autosomal dominant, Autosomal recessive

Neonatal

Wolman disease

Autosomal recessive

Infancy, Neonatal

Wrinkly skin syndrome

Autosomal recessive

Infancy, Neonatal

X-linked Alport syndrome

X-linked dominant

Childhood

X-linked Alport syndrome-diffuse leiomyomatosis

X-linked dominant

Adolescent, Adult, Childhood

X-linked agammaglobulinemia

X-linked recessive

Childhood

X-linked cerebral adrenoleukodystrophy

X-linked recessive

All ages

X-linked complicated corpus callosum dysgenesis

X-linked recessive

Antenatal, Neonatal

X-linked complicated spastic paraplegia type 1

X-linked recessive

Antenatal, Infancy, Neonatal