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