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