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