Shetty, 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.
|
AUS
|
2
|
8
|
Yes
|
Ataxia
Epileptic seizures (of any type) Motor delay Gait impairment Delayed gross motor development Dyskinesia Global developmental delay Hypothyroidism Developmental delay Delayed fine motor development Cerebellar signs -Motor Seizures Myoclonus Show more (+11) |
Ataxia
Hypothyroidism |
|
Yes
|
♂
|
n.a.
|
AUS
|
n.a.
|
4
|
Yes
|
Chorea
Muscular hypotonia |