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