Rosati, 2015: 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
|
♂
|
n.a.
|
ITA
|
3
|
12
|
n.a.
|
Chorea
Delayed gross motor development Motor delay -Motor Developmental delay Falls Gait impairment Show more (+4) |
Chorea
|
|
Yes
|
♀
|
n.a.
|
ITA
|
1
|
2
|
No
|
Gait impairment
Dystonia (any or unspecified) Muscular hypotonia Cerebellar signs -Motor Chorea Delayed gross motor development Developmental delay Falls Motor delay Dystonia Dystonia, arm Dystonia, generalized Facial twitches Ataxia Dystonia, foot Show more (+13) |
Chorea
Dystonia |