Veneziano, 2014: Overview of all reported CHOR-NKX2-1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
GBR
|
n.a.
|
49
|
Yes
|
Ataxia
Dystonia Delayed gross motor development Dysarthria Motor delay -Motor Cerebellar signs Gait impairment Hypothyroidism Chorea Dystonia (any or unspecified) Show more (+8) |
Ataxia
|
|
No
|
♀
|
n.a.
|
GBR
|
n.a.
|
26
|
Yes
|
Delayed gross motor development
Hypothyroidism Ataxia Gait impairment Chorea -Motor Cerebellar signs Motor delay Show more (+5) |
Ataxia
Chorea |