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