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