Ferrara, 2012: 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.
|
USA
|
3
|
13
|
Yes
|
Cognitive impairment
Global developmental delay Speech disturbance -Motor Chorea Dysarthria Psychotic sign/sympt. Motor delay Delayed speech and language development Hypothyroidism Show more (+7) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
USA
|
5
|
31
|
Yes
|
Cognitive impairment
Epileptic seizures (of any type) Dystonia, leg Dystonia Ataxia Global developmental delay Seizures Anxiety Speech disturbance Hypothyroidism Motor delay Dystonia, laryngeal Delayed speech and language development Gait impairment Cerebellar signs Dystonia (any or unspecified) -Motor Chorea Falls Dysarthria Show more (+17) |
Chorea
|
|
No
|
♀
|
n.a.
|
USA
|
1
|
3
|
Yes
|
Chorea
Global developmental delay -Motor Motor delay Cognitive impairment Delayed speech and language development Dysarthria Gait impairment Hypothyroidism Show more (+6) |
n.a.
|
|
No
|
♂
|
n.a.
|
USA
|
1
|
1
|
Yes
|
Gait impairment
-Motor Dysarthria Cognitive impairment Chorea Delayed speech and language development Global developmental delay Motor delay Hypothyroidism Show more (+6) |
n.a.
|
|
No
|
♀
|
n.a.
|
USA
|
n.a.
|
55
|
Yes
|
Delayed speech and language development
Chorea Global developmental delay Speech disturbance Dysarthria Cognitive impairment -Motor Motor delay Anxiety Show more (+6) |
Chorea
|
|
No
|
♀
|
n.a.
|
USA
|
1
|
4
|
Yes
|
Cognitive impairment
-Motor Dysarthria Epileptic seizures (of any type) Seizures Motor delay Chorea Hypothyroidism Delayed speech and language development Global developmental delay Gait impairment Show more (+8) |
n.a.
|
|
No
|
♂
|
n.a.
|
USA
|
1
|
1
|
Yes
|
-Motor
Chorea Hypothyroidism Delayed speech and language development Global developmental delay Motor delay Cognitive impairment Dysarthria Show more (+5) |
n.a.
|