| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Seizures
Developmental delay/intellectual disability Cognitive impairment Dystonia (any or unspecified) Gait disturbance Developmental regression Ataxia Abnormal central motor function Postural instability Upper motor neuron dysfunction Mri brain abnormality Myoclonus Show more (+9) |
Ataxia
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
12
|
n.a.
|
n.a.
|
Mri brain abnormality
Anarthria Spasticity Postural instability Seizures Dystonic posturing Gait disturbance Ataxia Developmental regression Abnormal central motor function Dystonia (any or unspecified) Developmental delay/intellectual disability Cognitive impairment Show more (+10) |
Spasticity
Developmental regression |