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