| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
NLD
|
n.a.
|
23
|
No
|
Athetosis
Muscular hypotonia Global developmental delay Motor delay Delayed speech and language development Delayed gross motor development -Motor Delayed fine motor development Developmental delay Chorea Moderate global developmental delay Cognitive impairment Hypothyroidism Show more (+10) |
Developmental delay
Hypothyroidism |