Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
5
|
No
|
Gait difficulties
Microcephaly Global developmental delay Behavioral issues -Motor Hyperreflexia Dystonia (any or unspecified) Muscular hypotonia Oculogyric crisis Spasticity Show more (+7) |
n.a.
|