Sempere, 2013: Overview of all reported CHOR-NKX2-1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
n.a.
|
0
|
41
|
Yes
|
Chorea
Cognitive impairment Developmental delay Gait impairment Delayed fine motor development Dystonia Dystonia, axial Delayed speech and language development Profound global developmental delay Motor delay Delayed gross motor development Severe global developmental delay -Motor Show more (+10) |
Chorea
|
|
No
|
♂
|
n.a.
|
n.a.
|
0
|
39
|
Yes
|
Delayed fine motor development
Motor delay -Motor Delayed gross motor development Dystonia, axial Severe global developmental delay Cognitive impairment Gait impairment Chorea Profound global developmental delay Developmental delay Delayed speech and language development Dystonia Show more (+10) |
Chorea
|
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
64
|
Yes
|
Chorea
-Motor |
Chorea
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
42
|
Yes
|
Delayed gross motor development
Delayed fine motor development Cognitive impairment Delayed speech and language development Developmental delay Dystonia Profound global developmental delay Gait impairment Severe global developmental delay Dystonia, axial Motor delay Chorea -Motor Show more (+10) |
Chorea
|
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
36
|
Yes
|
-Motor
Chorea |
Chorea
|