| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
TUR
|
1
|
20
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, segmental/multifocal Anxiety Abnormal central motor function Global developmental delay Myoclonus Muscular hypotonia Cognitive impairment Sleep disorder Autonomic sign/sympt. Intellectual developmental disorder Dystonia, axial Depression Developmental delay/intellectual disability Seizures Show more (+12) |
Muscular hypotonia
|
|
Yes
|
♀
|
C
|
n.a.
|
0
|
5
|
No
|
Tremor, intention
Muscular hypotonia Developmental delay/intellectual disability Global developmental delay Delayed speech and language development Seizures Intellectual developmental disorder Cognitive impairment Motor delay Tremor (any or unspecified) Abnormal central motor function Show more (+8) |
Tremor, intention
Muscular hypotonia Global developmental delay |
|
No
|
♂
|
B
|
TUR
|
0
|
7
|
n.a.
|
Myoclonus
Retrocollis Global developmental delay Developmental delay/intellectual disability Abnormal central motor function Hyperreflexia Dystonia, axial Sleep disorder Anxiety Dystonia (any or unspecified) Depression Intellectual developmental disorder Dystonia, segmental/multifocal Rigidity Dystonia, cervical Cognitive impairment Show more (+13) |
Dystonia (any or unspecified)
Rigidity |
|
Yes
|
♀
|
n.a.
|
TUR
|
1
|
23
|
No
|
Depression
Seizures Rigidity Intellectual developmental disorder Parkinsonism Cognitive impairment Delayed speech and language development Global developmental delay Oculogyric crisis Dyskinesia Muscular hypotonia Developmental delay/intellectual disability Anxiety Hyperreflexia Bradykinesia Abnormal central motor function Motor delay Dystonia (any or unspecified) Dystonia/Parkinsonism Sleep disorder Show more (+17) |
Parkinsonism
Muscular hypotonia |