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