Provenzano, 2016: 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
|
n.a.
|
9
|
No
|
Dystonia (any or unspecified)
Gait impairment Falls Chorea Delayed gross motor development Myoclonus Athetosis Hypothyroidism -Motor Dystonia Motor delay Developmental delay Show more (+9) |
Gait impairment
Chorea |
|
Yes
|
♀
|
n.a.
|
ESP
|
2
|
32
|
n.a.
|
Hypothyroidism
Dystonia, task-specific Athetosis Dystonia, foot Dystonic posturing Cerebellar signs Gait impairment Motor delay -Motor Delayed gross motor development Ballism Developmental delay Dystonia (any or unspecified) Myoclonus Chorea Falls Dystonia Dystonia, hand Ataxia Show more (+16) |
Gait impairment
Chorea |