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