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