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