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.
Torticollis
Dystonia, lower face
Microcephaly
Dystonia, arm
Dystonia, cervical
Dysarthria
Tremor, limb
Tremor (any or unspecified)
Myoclonus
Cognitive impairment
Dystonia, oromandibular
Dystonia, hand
Dysphonia
Dystonia (any or unspecified)
Dystonic tremor
Dystonia, craniofacial
Dystonia, generalized
Dystonia, limb
Dystonia, axial
Dystonia, leg
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n.a.