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