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