Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
0
|
12
|
No
|
Dystonia, focal
Dystonia (any or unspecified) Dystonia, lower face Muscular hypotonia Delayed speech and language development Abnormal central motor function Dystonia, oromandibular Show more (+4) |
Muscular hypotonia
Delayed speech and language development |
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
4
|
No
|
Delayed speech and language development
Global developmental delay Muscular hypotonia Dystonia (any or unspecified) Dystonia, limb Abnormal central motor function Intellectual developmental disorder Show more (+4) |
Global developmental delay
Muscular hypotonia |
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
24
|
No
|
Spasticity
Oculogyric crisis Abnormal central motor function Muscular hypotonia Hyperreflexia Seizures Show more (+3) |
Muscular hypotonia
Hyperreflexia Seizures |