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