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