Alpha-mannosidosis, infantile form

Autosomal recessive

Infancy

Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3

Autosomal recessive

Adolescent, Childhood

Alpha-thalassemia

Autosomal recessive

All ages

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

Not applicable, Unknown

Infancy, Neonatal

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 rhabdomyosarcoma

Multigenic/multifactorial

Alveolar soft tissue sarcoma

Not applicable

All ages

Amaurosis-hypertrichosis syndrome

Autosomal recessive

Neonatal

Amelo-onycho-hypohidrotic syndrome

No data available

Ameloblastic carcinoma

Not applicable

All ages

Ameloblastoma

Not applicable

All ages

Amelocerebrohypohidrotic syndrome

Autosomal recessive

Childhood, Infancy, Neonatal

Amelogenesis imperfecta

Autosomal dominant, Autosomal recessive, X-linked dominant

Infancy, Neonatal

American trypanosomiasis

Not applicable

All ages

Aminoacylase 1 deficiency

Autosomal recessive

Childhood

Aminopterin/methotrexate embryofetopathy

Not applicable

Antenatal, Neonatal

Amish lethal microcephaly

Autosomal recessive

Antenatal, Infancy, Neonatal

Amish nemaline myopathy

Autosomal recessive

Neonatal

Amniotic band syndrome

Antenatal, Neonatal