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