Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
AFG
|
2
|
2
|
n.a.
|
Mri brain other abnormalities
Developmental regression Abnormal central motor function Cognitive impairment Muscular hypotonia Show more (+2) |
Muscular hypotonia
|