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