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