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