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