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