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