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