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