| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
n.a.
|
C
|
ITA
|
n.a.
|
n.a.
|
n.a.
|
Pes cavus
Abnormality of the bladder Lower limb muscle weakness Impaired vibratory sensation Spasticity, lower limb -Pure or uncomplicated Babinski sign Show more (+4) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
n.a.
|
n.a.
|
n.a.
|
Pes cavus
Lower limb muscle weakness Abnormality of the bladder Babinski sign Spasticity, lower limb Impaired vibratory sensation -Pure or uncomplicated Show more (+4) |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
n.a.
|
n.a.
|
No
|
-Pure or uncomplicated
Lower limb muscle weakness Pes cavus Spasticity, lower limb Impaired vibratory sensation Babinski sign Show more (+3) |
n.a.
|