We have 5 adult children. 2 of our daughters have Joubert Syndrome. Suzie was born in 1981 and Nancy was born in 1986. They are #2 and #3 in our family. No one else on either side of our families have anything like Joubert Syndrome.
IN 2011 MY CHILD WAS SUFFERING FROM JOUBERT SYNDROME(aFTER DIAGNOSIS OF MRI)
DOCTOR SAYS HE NEVER WALK /AND SPEAK. BUT IT IS COMPLETELY WRONG. MY CHILD IS NOW GOING TO SCHOOL HE IS IN CLASS ONE. ONLY DELAY PROBLEM. HE CAN DO EVERY THING BUT DELAY OF...
Tengo 55 años, desde 2014 fui considerado paciente con ataxia espinocerebelosa; hasta que en 2022 pude correr un panel genético, el cual por, costoso no había podido hacer. En dicho panel apareció el gen TMEM67 como heterozigoto para SdeJoubert. ...
