Provenzano, 2008: Overview of all reported CHOR-NKX2-1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
GBR
|
1
|
1
|
Yes
|
Gait impairment
Speech disturbance Global developmental delay Delayed speech and language development Dystonia, arm Cerebellar signs Dysarthria Motor delay -Motor Chorea Trigger: Stress Dystonia (any or unspecified) Ataxia Mild global developmental delay Delayed gross motor development Dystonia Developmental delay Athetosis Show more (+15) |
Chorea
Developmental delay |
|
No
|
♂
|
C
|
GBR
|
n.a.
|
n.a.
|
Yes
|
Athetosis
Chorea -Motor |
n.a.
|