Kleiner-Fisman, 2003: 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.
|
CAN
|
2
|
n.a.
|
Yes
|
-Motor
Gait impairment Delayed fine motor development Global developmental delay Athetosis Motor delay Chorea Mild global developmental delay Developmental delay Delayed gross motor development Show more (+7) |
Developmental delay
|
|
No
|
♀
|
n.a.
|
CAN
|
2
|
19
|
Yes
|
Dystonia, generalized
Athetosis Mild global developmental delay Delayed fine motor development Chorea Motor delay Myoclonus Delayed gross motor development -Motor Developmental delay Global developmental delay Dystonic posturing Show more (+9) |
Developmental delay
|
|
Yes
|
♀
|
n.a.
|
CAN
|
16
|
53
|
Yes
|
Global developmental delay
Developmental delay Motor delay Mild global developmental delay -Motor Ataxia Athetosis Delayed fine motor development Delayed gross motor development Gait impairment Chorea Show more (+8) |
Developmental delay
|
|
No
|
♀
|
n.a.
|
CAN
|
2
|
n.a.
|
Yes
|
Delayed fine motor development
Chorea Developmental delay Motor delay -Motor Delayed gross motor development Global developmental delay Mild global developmental delay Athetosis Show more (+6) |
Developmental delay
|
|
No
|
♀
|
n.a.
|
CAN
|
2
|
n.a.
|
Yes
|
-Motor
Motor delay Delayed fine motor development Chorea Athetosis Global developmental delay Delayed gross motor development Developmental delay Mild global developmental delay Show more (+6) |
Developmental delay
|