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