| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
n.a.
|
37
|
56
|
n.a.
|
Pes cavus
-Pure or uncomplicated Babinski sign Impaired vibratory sensation Lower limb muscle weakness Show more (+2) |
n.a.
|
|
No
|
♂
|
C
|
n.a.
|
38
|
50
|
n.a.
|
-Pure or uncomplicated
Impaired vibratory sensation Lower limb muscle weakness Abnormality of the bladder Show more (+1) |
n.a.
|
|
No
|
♂
|
C
|
n.a.
|
15
|
22
|
n.a.
|
n.a.
|
||
No
|
♂
|
C
|
n.a.
|
15
|
45
|
n.a.
|
Lower limb muscle weakness
Impaired vibratory sensation -Pure or uncomplicated Pes cavus Babinski sign Show more (+2) |
n.a.
|
|
No
|
♂
|
C
|
n.a.
|
20
|
48
|
n.a.
|
Babinski sign
-Pure or uncomplicated Lower limb muscle weakness Impaired vibratory sensation Pes cavus Show more (+2) |
n.a.
|
|
No
|
♂
|
C
|
n.a.
|
4
|
34
|
n.a.
|
Pes cavus
Impaired vibratory sensation Babinski sign -Pure or uncomplicated Lower limb muscle weakness Show more (+2) |
n.a.
|
|
No
|
♂
|
C
|
n.a.
|
23
|
28
|
n.a.
|
Lower limb muscle weakness
-Pure or uncomplicated |
n.a.
|
|
No
|
♂
|
C
|
n.a.
|
4
|
22
|
n.a.
|
-Pure or uncomplicated
Lower limb muscle weakness Hyperreflexia in upper limbs Pes cavus Show more (+1) |
n.a.
|
|
Yes
|
♀
|
C
|
n.a.
|
40
|
56
|
n.a.
|
n.a.
|
||
No
|
♂
|
C
|
n.a.
|
25
|
48
|
n.a.
|
-Pure or uncomplicated
Pes cavus Babinski sign Hyperreflexia in upper limbs Lower limb muscle weakness Show more (+2) |
n.a.
|