Argyria

Not applicable

All ages

Aromatase deficiency

Autosomal recessive

All ages

Aromatase excess syndrome

Autosomal dominant

Adolescent, Childhood

Aromatic L-amino acid decarboxylase deficiency

Autosomal recessive

Infancy, Neonatal

Arthrochalasia Ehlers-Danlos syndrome

Autosomal dominant

Infancy, Neonatal

Asbestos intoxication

All ages

Aseptic abscess syndrome

Not applicable

Adolescent, Adult

Asherman syndrome

Not applicable

Adult

Aspartylglucosaminuria

Autosomal recessive

Childhood

Aspergillosis

Not applicable

All ages

Astroblastoma

Not applicable

Adolescent, Adult, Childhood, Infancy

Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome

Autosomal recessive

Ataxia with vitamin E deficiency

Autosomal recessive

All ages

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-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

Athabaskan brainstem dysgenesis syndrome

Autosomal recessive

Infancy, Neonatal

Atopic keratoconjunctivitis

Not applicable

All ages

Atrichia with papular lesions

Autosomal recessive