| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
4
|
14
|
n.a.
|
Dystonia, laryngeal
Myoclonus Dystonia, jaw Cognitive impairment Dystonia, craniofacial Short stature Anarthria Dystonia, foot Dysmorphic features Dystonia, axial Dystonia, cervical Motor delay Severe global developmental delay Tremor (any or unspecified) Dystonia, oromandibular Dystonia, limb Microcephaly Dystonia, hand Dystonia (any or unspecified) Dystonia, leg Dystonia, generalized Dystonia, arm Global developmental delay Dystonia, lower face Show more (+21) |
n.a.
|