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