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