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