Hackenberg, 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
n.a.
n.a.
7
9
No
Dystonia, hand
Delayed speech and language development
Myoclonus
Dystonia, limb
Global developmental delay
Dystonia (any or unspecified)
Dystonia, laryngeal
Dysphonia
Dystonia,task-specific
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Dystonia, laryngeal