| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
D
|
USA
|
n.a.
|
n.a.
|
n.a.
|
-Pure or uncomplicated
Spasticity, lower limb Pes cavus Tip-toe gait Spastic gait Babinski sign Lower limb muscle weakness Show more (+4) |
n.a.
|
|
No
|
♂
|
D
|
USA
|
n.a.
|
n.a.
|
n.a.
|
Spastic gait
Lower limb muscle weakness Spasticity, lower limb Pes cavus Walking aids -Pure or uncomplicated Babinski sign Tip-toe gait Show more (+5) |
n.a.
|
|
No
|
♂
|
D
|
USA
|
n.a.
|
n.a.
|
n.a.
|
Babinski sign
Spasticity, lower limb Lower limb muscle weakness Tip-toe gait Spastic gait -Pure or uncomplicated Pes cavus Show more (+4) |
n.a.
|
|
No
|
♀
|
D
|
USA
|
n.a.
|
n.a.
|
n.a.
|
Babinski sign
Lower limb muscle weakness Pes cavus -Pure or uncomplicated Spasticity, lower limb Tip-toe gait Spastic gait Show more (+4) |
n.a.
|
|
Yes
|
♂
|
D
|
USA
|
n.a.
|
5
|
n.a.
|
Spasticity, lower limb
Pes cavus Lower limb muscle weakness Tip-toe gait Babinski sign -Pure or uncomplicated Spastic gait Show more (+4) |
n.a.
|
|
No
|
♂
|
D
|
USA
|
n.a.
|
n.a.
|
n.a.
|
-Pure or uncomplicated
Pes cavus Lower limb muscle weakness Spastic gait Tip-toe gait Babinski sign Spasticity, lower limb Show more (+4) |
n.a.
|