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