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