Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
USA
|
3
|
13
|
Yes
|
Cognitive impairment
Motor delay Psychotic sign/sympt. Hypothyroidism Speech disturbance -Motor Delayed speech and language development Chorea Global developmental delay Dysarthria Show more (+7) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
USA
|
5
|
31
|
Yes
|
Speech disturbance
Dystonia, leg Hypothyroidism Seizures Falls -Motor Chorea Anxiety Dysarthria Dystonia Dystonia (any or unspecified) Epileptic seizures (of any type) Global developmental delay Cognitive impairment Delayed speech and language development Dystonia, laryngeal Motor delay Cerebellar signs Gait impairment Ataxia Show more (+17) |
Chorea
|
|
No
|
♀
|
n.a.
|
USA
|
1
|
3
|
Yes
|
-Motor
Chorea Cognitive impairment Dysarthria Motor delay Delayed speech and language development Global developmental delay Gait impairment Hypothyroidism Show more (+6) |
n.a.
|
|
No
|
♂
|
n.a.
|
USA
|
1
|
1
|
Yes
|
Cognitive impairment
Global developmental delay Hypothyroidism Dysarthria Chorea Gait impairment Motor delay -Motor Delayed speech and language development Show more (+6) |
n.a.
|
|
No
|
♀
|
n.a.
|
USA
|
n.a.
|
55
|
Yes
|
Global developmental delay
Anxiety Motor delay Dysarthria Speech disturbance Chorea -Motor Delayed speech and language development Cognitive impairment Show more (+6) |
Chorea
|
|
No
|
♀
|
n.a.
|
USA
|
1
|
4
|
Yes
|
Cognitive impairment
Delayed speech and language development Hypothyroidism Epileptic seizures (of any type) -Motor Global developmental delay Gait impairment Chorea Dysarthria Seizures Motor delay Show more (+8) |
n.a.
|
|
No
|
♂
|
n.a.
|
USA
|
1
|
1
|
Yes
|
Motor delay
Cognitive impairment Delayed speech and language development Dysarthria -Motor Chorea Global developmental delay Hypothyroidism Show more (+5) |
n.a.
|