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
|
Cerebellar signs
Motor delay Dystonia Dysarthria -Motor Delayed gross motor development Dystonia (any or unspecified) Chorea Hypothyroidism Gait impairment Ataxia Show more (+8) |
Ataxia
|
|
No
|
♀
|
n.a.
|
GBR
|
n.a.
|
26
|
Yes
|
Ataxia
Motor delay Cerebellar signs Delayed gross motor development Hypothyroidism Gait impairment -Motor Chorea Show more (+5) |
Ataxia
Chorea |