| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
TWN
|
0
|
4
|
No
|
Autonomic sign/sympt.
Parkinsonism Hypotonia Delayed motor development Hyperreflexia Dyskinesia Developmental delay Rigidity Oculogyric crisis Show more (+6) |
Oculogyric crisis
|
|
Yes
|
♂
|
A
|
TWN
|
0
|
13
|
No
|
Delayed motor development
Tremor (any or unspecified) Hyperreflexia Parkinsonism Rigidity Developmental delay Hypotonia Show more (+4) |
Tremor (any or unspecified)
|
|
Yes
|
♀
|
A
|
TWN
|
0
|
3
|
No
|
Oculogyric crisis
Hyperreflexia Hypotonia Rigidity Dyskinesia Autonomic sign/sympt. Delayed motor development Dystonia (any or unspecified) Developmental delay Parkinsonism Dystonia/Parkinsonism Show more (+8) |
Oculogyric crisis
|
|
Yes
|
♂
|
A
|
TWN
|
0
|
7
|
No
|
Autonomic sign/sympt.
Upper limb dystonia Developmental regression Delayed motor development Hypotonia Parkinsonism Tremor (any or unspecified) Rigidity Dyskinesia Dystonia, limb Developmental delay Hyperreflexia Dystonia/Parkinsonism Bradykinesia Dystonia (any or unspecified) Diurnal fluctuations Dystonia, cervical Show more (+14) |
Hypotonia
Tremor (any or unspecified) Developmental delay |
|
Yes
|
♀
|
A
|
TWN
|
0
|
12
|
n.a.
|
Rigidity
Dystonia (any or unspecified) Oculogyric crisis Decreased body weight Developmental delay Gait difficulties Bradykinesia Parkinsonism Short stature Delayed motor development Hyperreflexia Sleep disorder Developmental regression Dystonia/Parkinsonism Dyskinesia Tremor (any or unspecified) Autonomic sign/sympt. Hypotonia Postural instability Residual motor signs Show more (+17) |
Oculogyric crisis
Tremor (any or unspecified) |
|
Yes
|
♀
|
A
|
TWN
|
0
|
8
|
No
|
Tremor (any or unspecified)
Hypotonia Parkinsonism Oculogyric crisis Rigidity Autonomic sign/sympt. Delayed motor development Developmental delay Hyperreflexia Show more (+6) |
Tremor (any or unspecified)
Oculogyric crisis |