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