Skip to main content

Disease list 🧬

Update on Semptember 02 2016

Disease

 OMIM ORPHANET  
Aicardi syndrome 304050 ORPHA50 samples
Charcot-Marie-Tooth disease type 1A 118220 ORPHA101081 samples
Di George syndrome 188400 ORPHA567 samples
Friedreich Ataxia 229300 ORPHA95 samples
Huntington chorea 143100 ORPHA399 samples
Kabuki syndrome 147920 ORPHA2322 samples
Osteogenesis imperfecta . . samples
Prader Willi syndrome 176270 ORPHA739 simples
Refetoff syndrome 274300 ORPHA3221 simples
Rett syndrome 312750 ORPHA778 samples
Vitamin D Deficiency . . samples
Williams Beuren syndrome 194050 ORPHA904 samples
WBS Duplication syndrome 609757 ORPHA96121 samples
Wolfram syndrome type 2 604928 ORPHA3463 samples

Samples should be requested through the Telethon Network of Genetic Biobanks (TNGB)

Â