| 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.
|
Cognitive impairment
Hyperreflexia Global developmental delay Pyramidal sign Dysarthria Gait disturbance Motor delay Dysphonia Cerebellar atrophy Delayed speech and language development Mri brain other abnormalities Hypotonia Bulbar dysfunction Muscular hypotonia Spasticity Hypointensity on basal ganglia and or nigra Delayed gross motor development Cerebellar signs Abnormal central motor function Show more (+16) |
n.a.
|