Genetic syndromes
- 7p22.1 microduplication syndrome
- 7q11.23 duplication syndrome
- Absence of fingerprints-congenital milia syndrome
- Absent tibia-polydactyly-arachnoid cyst syndrome
- Al Gazali Sabrinathan Nair syndrome
- Autism with port-wine stain syndrome
- Bamforth–Lazarus syndrome
- Barakat-Perenthaler syndrome
- Biemond syndrome
- Birk-Barel syndrome
- Börjeson–Forssman–Lehmann syndrome
- Boucher-Neuhäuser syndrome
- Brachydactyly-long thumb syndrome
- Camera–Marugo–Cohen syndrome
- Camptodactyly, tall stature, and hearing loss syndrome
- Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
- Cardiospondylocarpofacial syndrome
- Carey Fineman Ziter syndrome
- Cataract-ataxia-deafness syndrome
- CHARGE syndrome
- Chromosomal deletion syndrome
- Chung–Jansen syndrome
- Cole–Carpenter syndrome
- Contiguous gene syndrome
- Costeff syndrome
- Cousin–Walbraum–Cegarra syndrome
- Cryptorchidism-arachnodactyly-intellectual disability syndrome
- Curry–Jones syndrome
- Dauwerse–Peters syndrome
- DeSanto-Shinawi syndrome
- Early-onset parkinsonism-intellectual disability syndrome
- Emanuel syndrome
- Enamel-renal syndrome
- Feigenbaum-Bergeron-Richardson syndrome
- Gilbert's syndrome
- Jones syndrome
- Joubert syndrome
- Kosaki overgrowth syndrome
- Kozlowski-Krajewska syndrome
- Lamb-Shaffer syndrome
- Liebenberg syndrome
- Lowry-Wood syndrome
- Lymphedema-posterior choanal atresia syndrome
- Marsili syndrome
- MEDNIK syndrome
- Menke-Hennekam syndrome
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
- Radio-renal syndrome
- Rare genetic syndromes
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