Carré, 2009: 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.
|
FRA
|
5
|
n.a.
|
Yes
|
-Motor
Hypothyroidism Motor delay Athetosis Delayed gross motor development Global developmental delay Developmental delay Muscular hypotonia Delayed fine motor development Chorea Show more (+7) |
Hypothyroidism
|
|
Yes
|
♂
|
n.a.
|
FRA
|
3
|
n.a.
|
n.a.
|
Developmental delay
Muscular hypotonia Athetosis Chorea Delayed gross motor development -Motor Delayed fine motor development Motor delay Global developmental delay Show more (+6) |
Chorea
|
|
Yes
|
♀
|
n.a.
|
FRA
|
2
|
n.a.
|
n.a.
|
Muscular hypotonia
-Motor Chorea Developmental delay Global developmental delay Delayed fine motor development Athetosis Hypothyroidism Motor delay Delayed gross motor development Show more (+7) |
Chorea
Hypothyroidism |
|
Yes
|
♀
|
n.a.
|
FRA
|
1
|
n.a.
|
n.a.
|
Developmental delay
Global developmental delay Muscular hypotonia Motor delay Athetosis Cerebellar signs Chorea Delayed gross motor development -Motor Ataxia Delayed fine motor development Show more (+8) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
FRA
|
2
|
n.a.
|
n.a.
|
Chorea
Delayed gross motor development Developmental delay Athetosis -Motor Muscular hypotonia Motor delay Delayed fine motor development Global developmental delay Hypothyroidism Show more (+7) |
Chorea
Hypothyroidism |