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