¿Cómo se diagnostica el Síndrome de aniridia-ataxia cerebelosa-discapacidad intelectual?
Cómo se diagnostica Síndrome de aniridia-ataxia cerebelosa-discapacidad intelectual: pruebas, especialistas y el camino hasta el diagnóstico, contado por pacientes y revisado con fuentes.
Original
An ophthalmologist is essential due to the vision related issues with Gillespie syndrome. A geneticists can perform genetic testing such as testing for the PAX 6 gene that is common in Gillespie syndrome. An MRI can show the cerebellar hypoplasia that occurs with GS.