A
- Achenbachs syndrom
- ACHOO syndrom
- Adrenoleukodystrofi
- Adrenomyelonevropati
- Afibrinogenemi
- Aicardi
- Aicardi-Goutières sykdom
- Alagille
- Alexanders sykdom
- Alfa-gal syndrom
- Alpers sykdom
- Alport syndrom
- Alternerende hemiplegi
- Angelmans syndrom
- Aniridi
- Anorektale misdannelser
- Apert syndrom
- APS 1
- Arthrogryposis multiplex congenita
- Ashermans syndrom
- Aspartylglykosaminuri
- Ataksier, arvelige
- Ataxia telangiectasia
- ATRT
- Axenfeld-Rieger syndrom
- Medfødt binyrebarksvikt (CAH)