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