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
|
Developmental delay
Ataxia Motor delay Chorea Delayed gross motor development -Motor Cerebellar signs 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
|
Hypothyroidism
Cerebellar signs Tremor, action Chorea Tremor (any or unspecified) Motor delay Delayed gross motor development Ataxia Developmental delay Tremor, intention -Motor Show more (+8) |
Chorea
Ataxia |