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