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