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.
|
Mri brain other abnormalities
Optic atrophy Neuromuscular abnormality Spasticity Global developmental delay Abnormal central motor function Developmental regression Hypotonia Cerebellar atrophy Strabismus Sleep disorder Delayed speech and language development Dystonia, limb NMS parkinsonism Motor delay Dystonia, focal Delayed gross motor development Pyramidal sign Gait disturbance Dystonia, leg Seizures Dystonia (any or unspecified) Muscular hypotonia Cognitive impairment Show more (+21) |
Motor delay
|