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