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
|
Falls
Dystonia Developmental delay Athetosis Delayed gross motor development Gait impairment -Motor Chorea Myoclonus Dystonia (any or unspecified) Hypothyroidism Motor delay Show more (+9) |
Gait impairment
Chorea |
|
Yes
|
♀
|
n.a.
|
ESP
|
2
|
32
|
n.a.
|
Dystonia, hand
-Motor Falls Dystonia (any or unspecified) Athetosis Hypothyroidism Delayed gross motor development Dystonia Chorea Gait impairment Developmental delay Dystonia, foot Motor delay Dystonic posturing Myoclonus Cerebellar signs Dystonia, task-specific Ballism Ataxia Show more (+16) |
Chorea
Gait impairment |