Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
ESP
|
1
|
n.a.
|
Yes
|
Delayed speech and language development
Hypothyroidism Chorea Ataxia -Motor Gait impairment Cognitive impairment Speech disturbance Delayed fine motor development Delayed gross motor development Athetosis Global developmental delay Developmental delay Motor 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
|
Chorea
Delayed gross motor development Motor delay Speech disturbance Cognitive impairment Developmental delay Global developmental delay -Motor Gait impairment Ataxia Hypothyroidism Delayed fine motor development Athetosis Delayed speech and language development Show more (+11) |
Chorea
Hypothyroidism |