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