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