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