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
|
Chorea
-Motor Hypothyroidism Motor fluctuations Delayed speech and language development Motor delay Severe global developmental delay Global developmental delay Dyskinesia Cerebellar signs Muscular hypotonia Delayed fine motor development Developmental delay Athetosis Delayed gross motor development Show more (+12) |
Hypothyroidism
Developmental delay |
|
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
|
Delayed fine motor development
Speech disturbance Muscular hypotonia Global developmental delay -Motor Hypothyroidism Motor delay Athetosis Delayed speech and language development Dysarthria Cerebellar signs Delayed gross motor development Chorea Developmental delay Severe global developmental delay Show more (+12) |
Hypothyroidism
Developmental delay |