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