| 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.
|
Diurnal fluctuations
Developmental regression Dystonia (any or unspecified) Motor delay Rigidity Global developmental delay Dystonia, axial Dystonia, generalized Dyskinesia Delayed speech and language development Muscular hypotonia Show more (+8) |
Muscular hypotonia
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
6
|
n.a.
|
Developmental regression
Dyskinesia Diurnal fluctuations Delayed speech and language development Motor delay Dysarthria Rigidity Global developmental delay Muscular hypotonia Dystonia (any or unspecified) Show more (+7) |
Muscular hypotonia
|
|
No
|
♀
|
n.a.
|
n.a.
|
7
|
22
|
n.a.
|
Dystonia, foot
|