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