Kawarai, 2018: 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
JPN
8
22
n.a.
Dysphonia
Dystonia, axial
Dystonia, hand
Dystonia, arm
Dystonia (any or unspecified)
Dystonia, limb
Global developmental delay
Motor delay
Cognitive impairment
Dystonia, cervical
Microcephaly
Dystonia,task-specific
Short stature
Dystonia, laryngeal
Dystonia, generalized
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Dystonia, hand
Yes
A
JPN
6
18
n.a.
Dystonia, limb
Microcephaly
Cognitive impairment
Dystonia, generalized
Dystonia, axial
Short stature
Global developmental delay
Motor delay
Dystonia, foot
Dystonia (any or unspecified)
Dystonia, cervical
Myoclonus
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n.a.
Yes
A
JPN
5
15
n.a.
Dysphonia
Motor delay
Microcephaly
Dystonia, limb
Dystonia, laryngeal
Global developmental delay
Myoclonus
Dystonia (any or unspecified)
Delayed speech and language development
Dystonia, arm
Dystonia, cervical
Dystonia, foot
Dystonia, leg
Muscular hypotonia
Dystonia, axial
Short stature
Cognitive impairment
Dystonia, generalized
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Dystonia, foot
Yes
A
JPN
6
16
n.a.
Dystonia, cervical
Dystonia, generalized
Dystonia, limb
Motor delay
Dystonia (any or unspecified)
Dysphonia
Global developmental delay
Dysarthria
Dystonia, axial
Microcephaly
Dystonia, laryngeal
Dystonia, craniofacial
Dysmorphic features
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n.a.