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