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