Ma, 2019: Overview of all reported DYT-KMT2B patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
A
CHN
24
31
n.a.
Dystonia, leg
Dystonia, limb
Dystonia, segmental/multifocal
Dystonia, laryngeal
Dysmorphic features
Dysarthria
Dystonia (any or unspecified)
Short stature
Microcephaly
Dystonia,task-specific
Dysphonia
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n.a.
p.Gln1359*: het
Yes
A
CHN
18
33
n.a.
Dystonia, hand
Dystonia,task-specific
Dystonia, generalized
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, axial
Torticollis
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Dystonia, hand
Yes
A
CHN
7
15
n.a.
Dystonia, hand
Dystonia, foot
Dystonia (any or unspecified)
Dystonia, laryngeal
Dysarthria
Dystonia, segmental/multifocal
Dystonia, limb
Dysphonia
Dystonia,task-specific
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Dystonia, foot