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