ANE syndrome

Autosomal recessive

Adult

ANK3-related intellectual disability-sleep disturbance syndrome

Autosomal recessive

Childhood

ATP6AP1-CDG

X-linked recessive

Antenatal, Infancy, Neonatal

AXIN2-related polyposis

Autosomal dominant

Adult

Abetalipoproteinemia

Autosomal recessive

Childhood, Infancy

Absence of fingerprints-congenital milia syndrome

Autosomal dominant

Childhood

Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome

Adult

Acatalasemia

Autosomal recessive

All ages

Aceruloplasminemia

Autosomal recessive

Adult, Elderly

Acetazolamide-responsive myotonia

Autosomal dominant

Childhood

Achondrogenesis

Autosomal dominant, Autosomal recessive

Antenatal, Neonatal

Achondroplasia

Autosomal dominant

Antenatal, Neonatal

Achromatopsia

Autosomal recessive

Infancy, Neonatal

Acinar cell carcinoma of pancreas

Not applicable

Adult

Acinar cystic transformation of the pancreas

Not applicable

Acquired angioedema with C1Inh deficiency

Not applicable

Acquired cutis laxa

Not applicable

All ages

Acquired cystic disease-associated renal cell carcinoma

Adult, Elderly

Acquired elastotic haemangioma

Adult, Elderly

Acquired factor V deficiency

Adult, Elderly

Acquired factor VII deficiency

All ages

Acquired factor X deficiency

All ages

Acquired factor XI deficiency

Adolescent, Adult

Acquired factor XIII deficiency

Adolescent, Adult, Childhood, Elderly