Zech, 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
CZE
17
21
n.a.
Dysarthria
Dystonia, axial
Dystonia, generalized
Dysphonia
Dystonia, cervical
Dystonia,task-specific
Dystonia, foot
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, laryngeal
Retrocollis
Dystonia, leg
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Dystonia, foot
Dystonia, leg
Yes
C
CZE
43
60
n.a.
Dystonia, limb
Dystonia (any or unspecified)
Dysphonia
Tremor (any or unspecified)
Dystonia, laryngeal
Dystonia, axial
Dystonia, generalized
Dystonia, cervical
Dysarthria
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n.a.
Yes
C
CZE
7
52
n.a.
Dystonia, limb
Dystonia, cervical
Dystonia, leg
Dystonia, foot
Retrocollis
Torticollis
Dystonia, craniofacial
Dysarthria
Dystonia, tongue
Dystonia, laryngeal
Tremor (any or unspecified)
Dystonia, generalized
Dystonia, axial
Dystonia (any or unspecified)
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Dystonia, foot