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