Gana, 2012: 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.
4
14
n.a.
Tremor (any or unspecified)
Dystonia, craniofacial
Dystonia, arm
Dystonia, leg
Myoclonus
Dystonia, oromandibular
Dystonia, cervical
Cognitive impairment
Dystonia, laryngeal
Motor delay
Dystonia, axial
Dystonia, foot
Anarthria
Dystonia, jaw
Dystonia, generalized
Dystonia, limb
Global developmental delay
Short stature
Dystonia, hand
Dystonia (any or unspecified)
Severe global developmental delay
Dysmorphic features
Microcephaly
Dystonia, lower face
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n.a.