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.
Short stature
Motor delay
Dystonia, cervical
Dystonia, axial
Global developmental delay
Dystonia, limb
Dystonia, generalized
Cognitive impairment
Dysphonia
Microcephaly
Dystonia, hand
Dystonia, laryngeal
Dystonia (any or unspecified)
Dystonia, arm
Dystonia,task-specific
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Dystonia, hand
Yes
A
JPN
6
18
n.a.
Dystonia, axial
Global developmental delay
Dystonia (any or unspecified)
Motor delay
Myoclonus
Dystonia, cervical
Short stature
Dystonia, limb
Dystonia, generalized
Cognitive impairment
Dystonia, foot
Microcephaly
Show more (+9)
n.a.
Yes
A
JPN
5
15
n.a.
Myoclonus
Motor delay
Microcephaly
Global developmental delay
Dystonia, foot
Dystonia, arm
Cognitive impairment
Dysphonia
Dystonia, laryngeal
Delayed speech and language development
Dystonia, limb
Dystonia, leg
Dystonia, generalized
Dystonia (any or unspecified)
Short stature
Dystonia, cervical
Muscular hypotonia
Dystonia, axial
Show more (+15)
Dystonia, foot
Yes
A
JPN
6
16
n.a.
Motor delay
Dystonia, laryngeal
Dystonia, craniofacial
Dysarthria
Dystonia, axial
Dystonia, limb
Dysmorphic features
Dystonia, generalized
Global developmental delay
Microcephaly
Dystonia, cervical
Dysphonia
Dystonia (any or unspecified)
Show more (+10)
n.a.