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