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