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
|
-Motor
Muscular hypotonia Chorea |
n.a.
|
|
No
|
♂
|
n.a.
|
FRA
|
n.a.
|
n.a.
|
Yes
|
-Motor
Cognitive impairment Chorea |
n.a.
|
|
Yes
|
♀
|
n.a.
|
FRA
|
3
|
n.a.
|
No
|
Dystonia
Muscular hypotonia -Motor Hypothyroidism Cognitive impairment Chorea Dystonia (any or unspecified) Show more (+4) |
n.a.
|
|
No
|
♂
|
n.a.
|
FRA
|
n.a.
|
n.a.
|
Yes
|
Chorea
-Motor Muscular hypotonia |
n.a.
|
|
No
|
♀
|
n.a.
|
FRA
|
n.a.
|
n.a.
|
Yes
|
Dystonia
Chorea Dystonia (any or unspecified) -Motor Hypothyroidism Muscular hypotonia Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
FRA
|
4
|
n.a.
|
No
|
n.a.
|
||
No
|
♀
|
n.a.
|
FRA
|
n.a.
|
n.a.
|
Yes
|
-Motor
Dystonia (any or unspecified) Muscular hypotonia Chorea Dystonia Hypothyroidism Show more (+3) |
n.a.
|
|
No
|
♀
|
n.a.
|
FRA
|
n.a.
|
n.a.
|
Yes
|
Chorea
-Motor Hypothyroidism |
n.a.
|
|
Yes
|
♂
|
n.a.
|
FRA
|
1
|
n.a.
|
Yes
|
n.a.
|