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