Gras, 2012: Overview of all reported CHOR-NKX2-1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
FRA
|
n.a.
|
n.a.
|
Yes
|
n.a.
|
||
No
|
♂
|
n.a.
|
FRA
|
n.a.
|
n.a.
|
Yes
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
FRA
|
3
|
n.a.
|
No
|
Dystonia (any or unspecified)
Dystonia Muscular hypotonia Chorea -Motor Hypothyroidism Show more (+3) |
n.a.
|
|
No
|
♂
|
n.a.
|
FRA
|
n.a.
|
n.a.
|
Yes
|
Tremor (any or unspecified)
Tremor, intention Muscular hypotonia Hypothyroidism Dystonia -Motor Tremor, action Dystonia (any or unspecified) Chorea Show more (+6) |
n.a.
|
|
No
|
♀
|
n.a.
|
FRA
|
n.a.
|
n.a.
|
Yes
|
-Motor
Hypothyroidism Muscular hypotonia Chorea Dystonia Dystonia (any or unspecified) Show more (+3) |
n.a.
|
|
No
|
♀
|
n.a.
|
FRA
|
n.a.
|
n.a.
|
Yes
|
n.a.
|
||
Yes
|
♀
|
n.a.
|
FRA
|
7
|
n.a.
|
No
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
FRA
|
2
|
n.a.
|
Yes
|
-Motor
Chorea Dystonia Dystonia (any or unspecified) Muscular hypotonia Cognitive impairment Show more (+3) |
n.a.
|