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