Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
n.a.
|
C
|
ITA
|
n.a.
|
17
|
n.a.
|
-Pure or uncomplicated
|
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
n.a.
|
38
|
n.a.
|
-Pure or uncomplicated
|
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
1
|
11
|
n.a.
|
-Pure or uncomplicated
Global developmental delay |
n.a.
|
|
Yes
|
n.a.
|
C
|
ITA
|
n.a.
|
4
|
n.a.
|
Spastic gait
Global developmental delay Walking aids |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
1
|
9
|
n.a.
|
n.a.
|
||
Yes
|
n.a.
|
C
|
ITA
|
n.a.
|
26
|
n.a.
|
Walking aids
-Pure or uncomplicated |
n.a.
|