A
- Achenbachs syndrom
- Adrenoleukodystrofi
- Adrenomyelonevropati
- Afibrinogenemi
- Aicardi
- Aicardi-Goutières sykdom
- Akondroplasi
- Akromesomelisk dysplasi, maroteaux type
- Akutt intermitterende porfyri
- Alagille
- Alexanders sykdom
- Alpers sykdom
- Alport syndrom
- Alternerende hemiplegi
- Amnionbånd syndrom
- Angelmans syndrom
- Aniridi
- Anorektale misdannelser
- Apert syndrom
- APS 1
- Arvelig spastisk paraparese
- Ashermans syndrom
- Aspartylglykosaminuri
- Ataksier, arvelige
- Ataxia telangiectasia
- ATRT
- Autoimmunt stivhetssyndrom
- Axenfeld-Rieger syndrom