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