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