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