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