Author | Mutation | Diagnosis | Type |
Orrico et al 42 | A140V | Mild MR | Familial |
T203M | Autistic Rett variant | Sporadic | |
Watsonet al 43 | 1230del44 | AS | |
P101R | AS | ||
1330del52 | AS | ||
Y141X | AS??? | ||
Imessaoudeneet al 44 | R106W | AS | |
R255X | AS | ||
R255X | AS | ||
803delG | AS | ||
R270X | Severe early onset encephalopathy |