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