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
|
Cognitive impairment
Delayed speech and language development Severe global developmental delay Motor delay Chorea Delayed gross motor development Dystonia, axial Dystonia Developmental delay Delayed fine motor development Gait impairment Profound global developmental delay -Motor Show more (+10) |
Chorea
|
|
No
|
♂
|
n.a.
|
n.a.
|
0
|
39
|
Yes
|
-Motor
Severe global developmental delay Cognitive impairment Gait impairment Developmental delay Chorea Profound global developmental delay Delayed fine motor development Delayed gross motor development Dystonia Motor delay Delayed speech and language development Dystonia, axial Show more (+10) |
Chorea
|
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
64
|
Yes
|
-Motor
Chorea |
Chorea
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
42
|
Yes
|
Dystonia
Delayed gross motor development Gait impairment Developmental delay Severe global developmental delay Delayed speech and language development Dystonia, axial Profound global developmental delay Chorea Cognitive impairment -Motor Motor delay Delayed fine motor development Show more (+10) |
Chorea
|
|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
36
|
Yes
|
Chorea
-Motor |
Chorea
|