Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
7
|
7
|
n.a.
|
Spasticity
Dysphonia Mri brain other abnormalities Bulbar dysfunction Hypointensity on basal ganglia and or nigra Cerebellar atrophy Motor delay Hyperreflexia Cognitive impairment Delayed gross motor development Cerebellar signs Pyramidal sign Dysarthria Gait disturbance Global developmental delay Muscular hypotonia Abnormal central motor function Delayed speech and language development Hypotonia Show more (+16) |
n.a.
|