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