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