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