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