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