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.
|
Developmental delay/intellectual disability
Mri brain abnormality Gait disturbance Myoclonus Ataxia Seizures Developmental regression Upper motor neuron dysfunction Cognitive impairment Dystonia (any or unspecified) Postural instability Abnormal central motor function Show more (+9) |
Ataxia
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
12
|
n.a.
|
n.a.
|
Gait disturbance
Anarthria Dystonia (any or unspecified) Postural instability Seizures Developmental delay/intellectual disability Mri brain abnormality Ataxia Developmental regression Spasticity Dystonic posturing Abnormal central motor function Cognitive impairment Show more (+10) |
Developmental regression
Spasticity |