Willemsen, 2005: 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
|
♂
|
C
|
NLD
|
n.a.
|
23
|
No
|
Delayed speech and language development
Global developmental delay Moderate global developmental delay -Motor Athetosis Hypothyroidism Chorea Motor delay Delayed gross motor development Delayed fine motor development Developmental delay Muscular hypotonia Cognitive impairment Show more (+10) |
Hypothyroidism
Developmental delay |