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
|
Delayed speech and language development
Gait impairment Hypothyroidism Severe global developmental delay Cerebellar signs Dyskinesia Delayed gross motor development Dystonia (any or unspecified) Global developmental delay Falls Ataxia Muscular hypotonia Delayed fine motor development Developmental delay -Motor Motor delay Dystonia Show more (+14) |
Hypothyroidism
Motor delay |