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