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
Babinski sign -Pure or uncomplicated Lower limb muscle weakness Abnormality of the bladder Spasticity, lower limb Impaired vibratory sensation Show more (+4) |
n.a.
|
|
No
|
n.a.
|
C
|
ITA
|
n.a.
|
n.a.
|
n.a.
|
Babinski sign
Pes cavus -Pure or uncomplicated Spasticity, lower limb Abnormality of the bladder Lower limb muscle weakness Impaired vibratory sensation Show more (+4) |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
n.a.
|
n.a.
|
No
|
Spasticity, lower limb
Impaired vibratory sensation -Pure or uncomplicated Lower limb muscle weakness Babinski sign Pes cavus Show more (+3) |
n.a.
|