Uematsu, 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
|
♂
|
A
|
JPN
|
n.a.
|
6
|
Yes
|
Hypothyroidism
Athetosis Chorea Gait impairment -Motor Cerebellar signs Delayed gross motor development Show more (+4) |
Hypothyroidism
|
|
Yes
|
♀
|
A
|
JPN
|
n.a.
|
7
|
No
|
Cerebellar signs
Athetosis Hypothyroidism Chorea -Motor Gait impairment Delayed gross motor development Show more (+4) |
Hypothyroidism
Chorea |
|
Yes
|
♀
|
A
|
JPN
|
n.a.
|
5
|
Yes
|
Gait impairment
Delayed gross motor development Cerebellar signs -Motor Chorea Athetosis Hypothyroidism Show more (+4) |
Chorea
Hypothyroidism |