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