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