| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
KWT
|
1
|
3
|
No
|
Hyperreflexia
Cerebellar atrophy Gait disturbance Developmental regression Muscular hypotonia Mri brain other abnormalities Microcephaly Pyramidal sign Abnormal central motor function Show more (+6) |
Developmental regression
|