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