#EnfermedadRara infradiagnosticada (1/38.000)
as a #raredisease association we are here to advocate for the recognition of new 🧬 #geneticdiseases.
In our case, the disease is associated with #Doose syndrome but caused by the #SLC6A1 mutation and not so easy to spell for a name 😅
as a #raredisease association we are here to advocate for the recognition of new 🧬 #geneticdiseases.
In our case, the disease is associated with #Doose syndrome but caused by the #SLC6A1 mutation and not so easy to spell for a name 😅