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