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