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