Aseptic abscess syndrome

Not applicable

Adolescent, Adult

Asherman syndrome

Not applicable

Adult

Aspartylglucosaminuria

Autosomal recessive

Childhood

Aspergillosis

Not applicable

All ages

Astley-Kendall dysplasia

Autosomal recessive

Antenatal, Neonatal

Astroblastoma

Not applicable

Adolescent, Adult, Childhood, Infancy

Astrocytoma

All ages

Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome

Autosomal recessive

Ataxia with vitamin E deficiency

Autosomal recessive

All ages

Ataxia-deafness-intellectual disability syndrome

Unknown

Childhood, Infancy

Ataxia-hypogonadism-choroidal dystrophy syndrome

Autosomal recessive

Childhood

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome

Autosomal recessive

Infancy, Neonatal

Ataxia-oculomotor apraxia type 1

Autosomal recessive

Childhood

Ataxia-oculomotor apraxia type 4

Autosomal recessive

Childhood, Infancy

Ataxia-pancytopenia syndrome

Autosomal dominant

Adolescent, Adult, Childhood

Ataxia-photosensitivity-short stature syndrome

Unknown

Childhood, Infancy

Ataxia-tapetoretinal degeneration syndrome

Unknown

Adolescent, Childhood, Infancy

Ataxia-telangiectasia

Autosomal recessive

Childhood, Infancy

Ataxia-telangiectasia variant

Autosomal recessive

Ataxia-telangiectasia-like disorder

Autosomal recessive

Infancy, Neonatal

Atelosteogenesis type I

Autosomal dominant

Antenatal, Neonatal

Atelosteogenesis type II

Autosomal recessive

Infancy, Neonatal

Atelosteogenesis type III

Autosomal dominant, Not applicable

Antenatal, Infancy, Neonatal

Athabaskan brainstem dysgenesis syndrome

Autosomal recessive

Infancy, Neonatal