Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
CHN
|
0
|
1
|
n.a.
|
Delayed motor development
Intellectual developmental disorder Developmental delay Short stature Dystonia (any or unspecified) Hypotonia Diurnal fluctuations Show more (+4) |
Hypotonia
|