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
Hypothyroidism Gait impairment Chorea -Motor Global developmental delay Speech disturbance Delayed fine motor development Delayed speech and language development Cognitive impairment Motor delay Ataxia Delayed gross motor development Developmental delay Show more (+11) |
Hypothyroidism
Chorea |
|
No
|
♀
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
Yes
|
Hypothyroidism
|
n.a.
|
|
No
|
♀
|
n.a.
|
ESP
|
n.a.
|
n.a.
|
Yes
|
Cognitive impairment
Global developmental delay Motor delay Ataxia Delayed fine motor development Developmental delay Hypothyroidism Athetosis Gait impairment -Motor Speech disturbance Delayed speech and language development Chorea Delayed gross motor development Show more (+11) |
Hypothyroidism
Chorea |