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