Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
CHN
|
0
|
n.a.
|
n.a.
|
Hypotonia
|
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
0
|
n.a.
|
n.a.
|
Dystonia (any or unspecified)
Hypotonia Dystonia, limb Dystonia, generalized Dystonia, axial Show more (+2) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
0
|
n.a.
|
n.a.
|
n.a.
|
||
Yes
|
♀
|
A
|
CHN
|
0
|
n.a.
|
n.a.
|
Cognitive impairment
Hypotonia Dystonia (any or unspecified) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
0
|
n.a.
|
n.a.
|
Dystonia, generalized
Dystonia, axial Hypotonia Dystonia (any or unspecified) Dystonia, limb Show more (+2) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
0
|
n.a.
|
n.a.
|
Dystonia, limb
Dystonia (any or unspecified) Dystonia, generalized Dystonia, axial Hypotonia Show more (+2) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
0
|
n.a.
|
n.a.
|
n.a.
|
||
Yes
|
♂
|
A
|
CHN
|
0
|
n.a.
|
n.a.
|
Dystonia, limb
Dystonia, axial Hypotonia Dystonia (any or unspecified) Dystonia, generalized Show more (+2) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
0
|
n.a.
|
n.a.
|
Dystonia, generalized
Hypotonia Dystonia, limb Dystonia (any or unspecified) Dystonia, axial Show more (+2) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
0
|
n.a.
|
n.a.
|
Hypotonia
Dystonia, axial Dystonia, limb Dystonia, generalized Dystonia (any or unspecified) Show more (+2) |
n.a.
|
|
No
|
♀
|
A
|
CHN
|
0
|
n.a.
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, axial Dystonia, generalized Hypotonia Dystonia, limb Show more (+2) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
0
|
n.a.
|
n.a.
|
Dystonia, axial
Dystonia, generalized Dystonia, limb Dystonia (any or unspecified) Hypotonia Show more (+2) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
0
|
n.a.
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, limb Dystonia, generalized Dystonia, axial Hypotonia Show more (+2) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
0
|
n.a.
|
n.a.
|
Dystonia, generalized
Dystonia, limb Dystonia (any or unspecified) Hypotonia Dystonia, axial Show more (+2) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
0
|
n.a.
|
n.a.
|
Hypotonia
Gait difficulties |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
0
|
n.a.
|
n.a.
|
n.a.
|
||
Yes
|
♂
|
A
|
CHN
|
0
|
n.a.
|
n.a.
|
n.a.
|
||
Yes
|
♀
|
A
|
CHN
|
0
|
n.a.
|
n.a.
|
Dystonia, axial
Dystonia, generalized Gait difficulties Dystonia (any or unspecified) Dystonia, limb Hypotonia Show more (+3) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
0
|
n.a.
|
n.a.
|
n.a.
|
||
Yes
|
♀
|
A
|
CHN
|
0
|
n.a.
|
n.a.
|
Hypotonia
Dystonia, limb Dystonia, axial Dystonia, generalized Gait difficulties Dystonia (any or unspecified) Show more (+3) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
0
|
n.a.
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, limb Dystonia, axial Hypotonia Dystonia, generalized Show more (+2) |
n.a.
|
|
Yes
|
♂
|
A
|
CHN
|
0
|
n.a.
|
n.a.
|
n.a.
|