Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
n.a.
|
n.a.
|
0
|
17
|
n.a.
|
Dystonia, generalized
Diurnal fluctuations Developmental regression Dystonia (any or unspecified) Delayed speech and language development Motor delay Dystonia, axial Muscular hypotonia Global developmental delay Dyskinesia Rigidity Show more (+8) |
Muscular hypotonia
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
6
|
n.a.
|
Dyskinesia
Motor delay Muscular hypotonia Global developmental delay Diurnal fluctuations Delayed speech and language development Dystonia (any or unspecified) Developmental regression Dysarthria Rigidity Show more (+7) |
Muscular hypotonia
|
|
No
|
♀
|
n.a.
|
n.a.
|
7
|
22
|
n.a.
|
Dystonia, foot
|