Lange, 2017: Overview of all reported DYT-KMT2B patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
DEU
4
11
n.a.
Dystonia, arm
Dystonia, craniofacial
Dysphonia
Dystonia, lower face
Dystonia, cervical
Dystonia, limb
Dystonic tremor
Tremor, limb
Tremor (any or unspecified)
Dystonia, oromandibular
Dystonia, generalized
Dystonia, axial
Dystonia, leg
Microcephaly
Cognitive impairment
Dysarthria
Dystonia, hand
Dystonia (any or unspecified)
Myoclonus
Torticollis
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n.a.