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