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