Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
ESP
|
1
|
n.a.
|
Yes
|
Athetosis
Chorea Global developmental delay Developmental delay Speech disturbance Gait impairment Delayed gross motor development Ataxia Delayed fine motor development Motor delay Hypothyroidism Cognitive impairment Delayed speech and language development -Motor Show more (+11) |
Chorea
Hypothyroidism |
|
No
|
♀
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
Yes
|
Hypothyroidism
|
n.a.
|
|
No
|
♀
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
Yes
|
Gait impairment
Delayed fine motor development Ataxia Cognitive impairment Developmental delay Motor delay Athetosis Hypothyroidism Delayed speech and language development Global developmental delay -Motor Delayed gross motor development Chorea Speech disturbance Show more (+11) |
Hypothyroidism
Chorea |