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