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