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