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
|
Delayed speech and language development
Short stature Ophthalmologic abnormalities Abnormality of skeletal morphology Mri brain abnormality Abnormal central motor function Ataxia Show more (+4) |
n.a.
|