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