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