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