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