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