Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
5
|
No
|
Abnormality of skeletal morphology
Abnormal central motor function Mri brain abnormality Ataxia Delayed speech and language development Ophthalmologic abnormalities Short stature Show more (+4) |
n.a.
|