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