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