Barreiro, 2011: 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.
|
ESP
|
2
|
n.a.
|
No
|
Ataxia
Gait impairment Delayed gross motor development Cerebellar signs Dystonia (any or unspecified) Delayed speech and language development Falls Hypothyroidism -Motor Severe global developmental delay Delayed fine motor development Dyskinesia Motor delay Global developmental delay Dystonia Developmental delay Muscular hypotonia Show more (+14) |
Hypothyroidism
Motor delay |