Asmus, 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
|
♀
|
n.a.
|
n.a.
|
1
|
n.a.
|
Yes
|
Global developmental delay
Developmental delay Dyskinesia Delayed fine motor development Hypothyroidism Delayed speech and language development Athetosis Muscular hypotonia Chorea Motor fluctuations Motor delay Delayed gross motor development Cerebellar signs -Motor Severe global developmental delay Show more (+12) |
Developmental delay
Hypothyroidism |
|
No
|
♀
|
n.a.
|
n.a.
|
1
|
n.a.
|
Yes
|
n.a.
|
||
No
|
♀
|
n.a.
|
n.a.
|
2
|
n.a.
|
Yes
|
n.a.
|
||
No
|
♂
|
n.a.
|
n.a.
|
2
|
n.a.
|
Yes
|
-Motor
Developmental delay Hypothyroidism Delayed speech and language development Global developmental delay Delayed gross motor development Muscular hypotonia Athetosis Speech disturbance Delayed fine motor development Severe global developmental delay Chorea Dysarthria Cerebellar signs Motor delay Show more (+12) |
Developmental delay
Hypothyroidism |