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