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