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