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