| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
8
|
n.a.
|
Severe global developmental delay
Muscular hypotonia Global developmental delay Myoclonus Dystonia, leg Parkinsonism Dystonia (any or unspecified) Tremor (any or unspecified) Bradykinesia Rigidity Motor delay Delayed speech and language development Short stature Dystonia, limb Dystonia, generalized Profound global developmental delay Dysmorphic features Cognitive impairment Show more (+15) |
n.a.
|