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