SE-ATLAS

Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Fragile X syndrome Neurofibromatosis type 1 Full NF2-related schwannomatosis Rett syndrome Alexander disease type II Alexander disease type I Niemann-Pick disease type C Niemann-Pick disease type C, severe early infantile neurologic onset Niemann-Pick disease type C, severe perinatal form Niemann-Pick disease type C, late infantile neurologic onset Severe Canavan disease Niemann-Pick disease type C, juvenile neurologic onset Mild Canavan disease Niemann-Pick disease type C, adult neurologic onset Tuberous sclerosis complex Legius syndrome Huntington disease Canavan disease 17q11 microdeletion syndrome Alexander disease