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