Melo, 2015: 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.
n.a.
23
n.a.
Global developmental delay
Dystonia, hand
Dystonia, arm
Dystonia (any or unspecified)
Dystonia, limb
Dysmorphic features
Cognitive impairment
Microcephaly
Short stature
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n.a.