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 (any or unspecified)
Tremor, limb
Dystonia, craniofacial
Dystonia, axial
Dystonia, leg
Cognitive impairment
Dysphonia
Dystonia, lower face
Dystonia, arm
Dystonia, limb
Dystonia, generalized
Dystonia, hand
Dystonia, oromandibular
Dysarthria
Myoclonus
Dystonia, cervical
Tremor (any or unspecified)
Microcephaly
Torticollis
Dystonic tremor
Show more (+17)
n.a.