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