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