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