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