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