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