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