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