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