Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
n.a.
|
Yes
|
Athetosis
Delayed fine motor development Hypothyroidism Global developmental delay Delayed gross motor development Developmental delay Chorea -Motor Cerebellar signs Muscular hypotonia Delayed speech and language development Motor delay Dyskinesia Severe global developmental delay Motor fluctuations Show more (+12) |
Hypothyroidism
Developmental delay |
|
No
|
♀
|
n.a.
|
n.a.
|
1
|
n.a.
|
Yes
|
n.a.
|
||
No
|
♀
|
n.a.
|
n.a.
|
2
|
n.a.
|
Yes
|
n.a.
|
||
No
|
♂
|
n.a.
|
n.a.
|
2
|
n.a.
|
Yes
|
Athetosis
Cerebellar signs Global developmental delay Muscular hypotonia -Motor Motor delay Developmental delay Speech disturbance Delayed gross motor development Dysarthria Hypothyroidism Delayed speech and language development Delayed fine motor development Severe global developmental delay Chorea Show more (+12) |
Developmental delay
Hypothyroidism |