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