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