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