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