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