| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
2
|
3
|
n.a.
|
Delayed gross motor development
Neuromuscular abnormality NMS parkinsonism Mri brain other abnormalities Dystonia, leg Developmental regression Abnormal central motor function Global developmental delay Muscular hypotonia Motor delay Hypotonia Optic atrophy Cognitive impairment Dystonia, focal Strabismus Dystonia (any or unspecified) Delayed speech and language development Gait disturbance Pyramidal sign Spasticity Dystonia, limb Sleep disorder Cerebellar atrophy Seizures Show more (+21) |
Motor delay
|