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