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