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