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
|
Mild global developmental delay
Dystonia (any or unspecified) Chorea Cerebellar signs Gait impairment -Motor Developmental delay Delayed gross motor development Dysarthria Speech disturbance Trigger: Stress Athetosis Ataxia Motor delay Delayed speech and language development Dystonia Global developmental delay Dystonia, arm Show more (+15) |
Chorea
Developmental delay |
|
No
|
♂
|
C
|
GBR
|
n.a.
|
n.a.
|
Yes
|
-Motor
Chorea Athetosis |
n.a.
|