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