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