Baizabal-Carvallo, 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
H
n.a.
8
13
n.a.
Global developmental delay
Dysmorphic features
Dystonia,task-specific
Motor delay
Dystonia (any or unspecified)
Microcephaly
Dystonia, generalized
Dystonia, laryngeal
Geste antagoniste
Torticollis
Cognitive impairment
Dystonia, axial
Dystonia, limb
Dystonia, cervical
Moderate global developmental delay
Delayed speech and language development
Dysphonia
Short stature
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n.a.