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