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