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