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