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