Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

Unknown

Neonatal

Alpers-Huttenlocher syndrome

Autosomal recessive

Adolescent, Adult, Childhood, Infancy

Alpha delta granule deficiency

Autosomal dominant, Autosomal recessive

Alpha-1-antitrypsin deficiency

Autosomal recessive

All ages

Alpha-B crystallin-related late-onset myopathy

Autosomal dominant

Adult

Alpha-N-acetylgalactosaminidase deficiency

Autosomal recessive

Adult, Childhood, Infancy

Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

Autosomal recessive

Childhood

Alpha-mannosidosis

Autosomal recessive

Childhood, Infancy, Neonatal

Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3

Autosomal recessive

Adolescent, Childhood

Alpha-thalassemia-myelodysplastic syndrome

Not applicable

Adult

Alport syndrome

Autosomal dominant, Autosomal recessive, X-linked dominant

Adolescent, Adult, Childhood, Elderly

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

X-linked recessive

Antenatal, Infancy, Neonatal

Alström syndrome

Autosomal recessive

Adolescent, Adult, Childhood, Infancy, Neonatal

Alternating hemiplegia of childhood

Autosomal dominant, Not applicable

Infancy, Neonatal

Alveolar echinococcosis

Not applicable

Adult, Elderly

Alveolar soft tissue sarcoma

Not applicable

All ages

Amaurosis-hypertrichosis syndrome

Autosomal recessive

Neonatal

Ameloblastic carcinoma

Not applicable

All ages

Ameloblastoma

Not applicable

All ages

Amelogenesis imperfecta

Autosomal dominant, Autosomal recessive, X-linked dominant

Infancy, Neonatal

American trypanosomiasis

Not applicable

All ages

Aminoacylase 1 deficiency

Autosomal recessive

Childhood

Amish nemaline myopathy

Autosomal recessive

Neonatal

Amniotic fluid embolism

Adult