Williamson, 2014: 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.
|
GBR
|
1
|
n.a.
|
Yes
|
Delayed gross motor development
Ataxia Cerebellar signs -Motor Motor delay Chorea Developmental delay Show more (+4) |
Chorea
|
|
No
|
♂
|
n.a.
|
GBR
|
1
|
n.a.
|
Yes
|
-Motor
Chorea Hypothyroidism |
Chorea
|
|
Yes
|
♂
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
Yes
|
Motor delay
Chorea Cerebellar signs Tremor, action Developmental delay Hypothyroidism Tremor (any or unspecified) -Motor Tremor, intention Delayed gross motor development Ataxia Show more (+8) |
Chorea
Ataxia |