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