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