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