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