Dai, 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
2
10
n.a.
Moderate global developmental delay
Motor delay
Dystonia, craniofacial
Dysphonia
Dystonia, axial
Cognitive impairment
Delayed speech and language development
Dystonia, foot
Global developmental delay
Dystonia (any or unspecified)
Severe global developmental delay
Dystonia, limb
Dystonia, cervical
Dystonia, arm
Dystonia, laryngeal
Dystonia, generalized
Dystonia, leg
Dystonia, tongue
Dystonia,task-specific
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n.a.