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
|
-Motor
Motor delay Hypothyroidism Cognitive impairment Delayed gross motor development Global developmental delay Moderate global developmental delay Delayed fine motor development Muscular hypotonia Athetosis Delayed speech and language development Developmental delay Chorea Show more (+10) |
Hypothyroidism
Developmental delay |