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