| 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
Athetosis Gait impairment Hypothyroidism Chorea Cognitive impairment Delayed gross motor development -Motor Motor delay Ataxia Developmental delay Delayed fine motor development Global developmental delay Speech disturbance 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
|
Gait impairment
Chorea Speech disturbance Ataxia Athetosis Delayed speech and language development Developmental delay Hypothyroidism Cognitive impairment Motor delay Delayed gross motor development -Motor Delayed fine motor development Global developmental delay Show more (+11) |
Chorea
Hypothyroidism |