Nettore, 2013: 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.
|
BRA
|
17
|
n.a.
|
Yes
|
Chorea
-Motor |
Chorea
|
|
No
|
♀
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
Yes
|
Chorea
Hypothyroidism |
||
No
|
♀
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
Yes
|
Hypothyroidism
Chorea -Motor |
Chorea
|
|
No
|
♂
|
n.a.
|
BRA
|
22
|
n.a.
|
Yes
|
Dystonia, cervical
Chorea Hypothyroidism -Motor Dystonia Dystonia (any or unspecified) Show more (+3) |
Dystonia, cervical
Hypothyroidism |
|
Yes
|
♂
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
Yes
|
Developmental delay
Ataxia Cerebellar signs Delayed gross motor development Hypothyroidism Delayed fine motor development -Motor Chorea Global developmental delay Gait impairment Motor delay Show more (+8) |
Chorea
Motor delay |