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