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