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