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