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