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