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