12p12.1 microdeletion syndrome

Autosomal dominant, Not applicable

Infancy, Neonatal

17q11 microdeletion syndrome

Not applicable

Antenatal, Infancy, Neonatal

6-pyruvoyl-tetrahydropterin synthase deficiency

Autosomal recessive

Infancy, Neonatal

AApoAI amyloidosis

Autosomal dominant

AApoAII amyloidosis

Autosomal dominant

ABeta amyloidosis, Arctic type

Autosomal dominant

Adult, Elderly

ABeta amyloidosis, Dutch type

Autosomal dominant

Adult

ABeta amyloidosis, Iowa type

Autosomal dominant

Elderly

ABeta amyloidosis, Italian type

Autosomal dominant

Adult, Elderly

ABetaA21G amyloidosis

Autosomal dominant

Adult

ABetaL34V amyloidosis

Autosomal dominant

Adult, Elderly

ABri amyloidosis

Autosomal dominant

Adult

ACys amyloidosis

Autosomal dominant

Adolescent, Adult

ADan amyloidosis

Autosomal dominant

AFib amyloidosis

Autosomal dominant

ALys amyloidosis

Autosomal dominant

ATTRV122I amyloidosis

Autosomal dominant

Adult

ATTRV30M amyloidosis

Autosomal dominant

Adult

Achondrogenesis type 1A

Autosomal recessive

Antenatal, Neonatal

Achondrogenesis type 1B

Autosomal recessive

Antenatal, Neonatal

Achondrogenesis type 2

Autosomal dominant

Antenatal, Neonatal

Acquired angioedema type 1

Not applicable

Adult

Acquired angioedema type 2

Not applicable

Adult

Acquired arginine vasopressin deficiency

All ages