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