Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
TUR
|
42
|
48
|
n.a.
|
Wheelchair
-Pure or uncomplicated Inability to walk Abnormality of the bladder Pes cavus Spasticity, lower limb Abnormality of the skeletal system Show more (+4) |
n.a.
|
|
No
|
♂
|
C
|
TUR
|
30
|
37
|
n.a.
|
Spasticity, lower limb
Abnormality of the bladder -Pure or uncomplicated |
n.a.
|
|
No
|
♂
|
C
|
TUR
|
3
|
45
|
n.a.
|
Spasticity, lower limb
-Pure or uncomplicated Abnormality of the bladder |
n.a.
|
|
No
|
♀
|
C
|
TUR
|
64
|
71
|
n.a.
|
Abnormality of the bladder
Spasticity, lower limb Abnormality of the skeletal system -Pure or uncomplicated Pes cavus Inability to walk Wheelchair Show more (+4) |
n.a.
|
|
Yes
|
♀
|
C
|
TUR
|
4
|
50
|
n.a.
|
Abnormality of the bladder
-Pure or uncomplicated Spasticity, lower limb |
n.a.
|