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