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