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