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