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