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