Alpha-mannosidosis, infantile form

Autosomal recessive

Infancy

Alveolar rhabdomyosarcoma

Multigenic/multifactorial

Ankyloblepharon filiforme adnatum-cleft palate syndrome

Autosomal dominant

Neonatal

Ankyloblepharon filiforme adnatum-imperforate anus syndrome

Unknown

Neonatal

Anonychia congenita totalis

Autosomal recessive

Anonychia-onychodystrophy syndrome

Autosomal dominant, Autosomal recessive

Antenatal multiminicore disease with arthrogryposis multiplex congenita

Antenatal

Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis

Autosomal recessive

Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis

Autosomal dominant

Atrial septal defect, coronary sinus type

Antenatal, Infancy, Neonatal

Atrial septal defect, ostium primum type

Autosomal dominant, Not applicable

Antenatal, Infancy, Neonatal

Atrial septal defect, ostium secundum type

Autosomal dominant, Not applicable

Antenatal, Infancy, Neonatal

Atrial septal defect, sinus venosus type

Autosomal dominant, Not applicable

Antenatal, Infancy, Neonatal

Atypical Gaucher disease due to saposin C deficiency

Autosomal recessive

Atypical Timothy syndrome

Autosomal dominant

Antenatal, Neonatal

Atypical dentin dysplasia due to SMOC2 deficiency

Autosomal recessive

Infancy, Neonatal

Atypical glycine encephalopathy

Unknown

All ages

Atypical pantothenate kinase-associated neurodegeneration

Autosomal recessive

Childhood

Atypical progressive supranuclear palsy syndrome

Adult, Elderly

Autoimmune hepatitis type 1

Adult

Autoimmune hepatitis type 2

Adolescent, Adult, Childhood

Autoimmune pancreatitis type 1

Not applicable

Adult

Autosomal dominant Alport syndrome

Autosomal dominant

Childhood

Autosomal dominant Robinow syndrome

Autosomal dominant

Infancy, Neonatal