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