Acute endophthalmitis

Not applicable

All ages

Acute mast cell leukemia

Not applicable

Acute megakaryoblastic leukemia in children with Down syndrome

Not applicable

Childhood

Acute megakaryoblastic leukemia in children without Down syndrome

Not applicable

Childhood

Acute neonatal citrullinemia type I

Autosomal recessive

Infancy, Neonatal

Acute transverse myelitis with anti-MOG antibodies

Adolescent, Adult, Childhood, Elderly, Infancy

Adrenomyeloneuropathy

X-linked recessive

Adult

Adult CLN1 disease

Autosomal recessive

Adult CLN5 disease

Autosomal recessive

Adult CLN6 disease

Autosomal recessive

Adult Krabbe disease

Autosomal recessive

Adult

Adult hypophosphatasia

Autosomal dominant, Autosomal recessive

Adult

Adult intestinal botulism

Adult

Adult polyglucosan body disease

Autosomal recessive

Adult

Adult-onset Steinert myotonic dystrophy

Autosomal dominant

Adult

Adult-onset myasthenia gravis

Multigenic/multifactorial, Not applicable

Adult

Alexander disease type I

Not applicable

Infancy, Neonatal

Alexander disease type II

Autosomal dominant

Adolescent, Adult, Childhood

Alobar holoprosencephaly

Multigenic/multifactorial, Not applicable

Infancy, Neonatal

Alpha-N-acetylgalactosaminidase deficiency type 1

Autosomal recessive

Infancy, Neonatal

Alpha-N-acetylgalactosaminidase deficiency type 2

Autosomal recessive

Adult

Alpha-N-acetylgalactosaminidase deficiency type 3

Autosomal recessive

Childhood

Alpha-heavy chain disease

Adolescent, Adult

Alpha-mannosidosis, adult form

Autosomal recessive

Adult