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 |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
FRA
|
n.a.
|
n.a.
|
Yes
|
n.a.
|
||
No
|
♂
|
n.a.
|
FRA
|
n.a.
|
n.a.
|
Yes
|
n.a.
|
||
No
|
♂
|
n.a.
|
FRA
|
n.a.
|
n.a.
|
Yes
|
Muscular hypotonia
-Motor Chorea |
n.a.
|
|
Yes
|
♀
|
n.a.
|
FRA
|
n.a.
|
n.a.
|
Yes
|
Chorea
-Motor Hypothyroidism |
n.a.
|
|
Yes
|
♀
|
n.a.
|
FRA
|
2
|
n.a.
|
Yes
|
Global developmental delay
Delayed speech and language development Developmental delay Ataxia Mild global developmental delay Speech disturbance -Motor Delayed gross motor development Dysarthria Falls Muscular hypotonia Motor delay Chorea Show more (+10) |
Motor delay
Chorea |
|
No
|
♀
|
n.a.
|
FRA
|
4
|
n.a.
|
Yes
|
n.a.
|
||
Yes
|
♀
|
n.a.
|
FRA
|
8
|
n.a.
|
No
|
n.a.
|
||
Yes
|
♀
|
n.a.
|
FRA
|
2
|
n.a.
|
No
|
n.a.
|
||
Yes
|
♀
|
n.a.
|
FRA
|
4
|
n.a.
|
No
|
n.a.
|
||
Yes
|
♀
|
n.a.
|
FRA
|
2
|
n.a.
|
No
|
n.a.
|