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