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