Asmus, 2007: 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.
|
n.a.
|
2
|
14
|
Yes
|
-Motor
Athetosis Mild global developmental delay Developmental delay Global developmental delay Delayed gross motor development Motor delay Delayed fine motor development Chorea Gait impairment Ataxia Show more (+8) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Yes
|
Paroxysmal dyskinesia
Dystonia (any or unspecified) Delayed gross motor development Dystonia Athetosis Gait impairment Trigger: Sleep deprivation Developmental delay Delayed fine motor development Mild global developmental delay -Motor Motor delay Trigger: Anxiety Chorea Trigger: Stress Global developmental delay Ataxia Trigger: Sudden movement Show more (+15) |
Developmental delay
Chorea |