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