| 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, arm
Dystonia, leg Dysmorphic features Dystonia, axial Dystonia, oromandibular Cognitive impairment Dystonia, hand Dystonia, jaw Short stature Global developmental delay Myoclonus Dystonia, limb Dystonia, foot Dystonia, cervical Dystonia, generalized Anarthria Tremor (any or unspecified) Severe global developmental delay Dystonia, lower face Microcephaly Dystonia (any or unspecified) Motor delay Dystonia, craniofacial Dystonia, laryngeal Show more (+21) |
n.a.
|