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