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