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