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