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