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