Zech, 2017: Overview of all reported DYT-KMT2B patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
CZE
6
13
n.a.
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, axial
Motor delay
Dystonia, cervical
Dysmorphic features
Delayed speech and language development
Cognitive impairment
Dystonia, generalized
Global developmental delay
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n.a.