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

Index patient Sex Ethnicity Country of origin AAO Family history Symptoms Initial symptoms Reported mutations
Yes
n.g.
n.g.
2
No
Dystonia, laryngeal
Dystonia (any or unspecified)
Dystonia, generalized
Dysphonia
Dystonia, oromandibular
Dystonia, limb
Dystonia, foot
Dysarthria
Dystonia, leg
Dysmorphic features
Show more (+7)
Dystonia, foot
Dystonia, leg
p.Tyr1515*: hom
Yes
n.g.
n.g.
4
No
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Dystonia, foot
Short stature
Mild global developmental delay
Global developmental delay
Delayed speech and language development
Dystonia, leg
Dystonia, limb
Motor delay
Cognitive impairment
Dysmorphic features
Show more (+9)
Dystonia, foot
Dystonia, leg
Yes
n.g.
n.g.
4
No
Cognitive impairment
Dysmorphic features
Dystonia (any or unspecified)
Dystonia, generalized
Dysarthria
Delayed speech and language development
Dystonia, foot
Dystonia, leg
Dystonia, laryngeal
Seizures
Dystonia, limb
Show more (+8)
Dystonia, foot
Dystonia, leg
p.Arg564*: hom
Yes
n.g.
n.g.
2
No
Dystonia, foot
Torticollis
Dystonia, leg
Anarthria
Dystonia, tongue
Dystonia, laryngeal
Dystonia, generalized
Dysmorphic features
Dystonia, cervical
Delayed speech and language development
Dystonia (any or unspecified)
Dystonia, limb
Short stature
Dystonia, jaw
Show more (+11)
Dystonia, foot
Dystonia, leg
Yes
n.g.
n.g.
8
No
Dystonia, laryngeal
Dystonia, arm
Dystonia (any or unspecified)
Dystonia, generalized
Dystonia, hand
Cognitive impairment
Dystonia, limb
Motor delay
Dysphonia
Tremor (any or unspecified)
Dystonia, leg
Dysarthria
Dysmorphic features
Show more (+10)
Dystonia, arm
Dystonia, hand
Yes
n.g.
n.g.
8
Yes
Dystonia (any or unspecified)
Dystonia, cervical
Dysmorphic features
Retrocollis
Dystonia, jaw
Dystonia, generalized
Show more (+3)
Dystonia, cervical
Dystonia, jaw
Yes
n.g.
n.g.
3
n.g.
Dystonia, cervical
Dysarthria
Microcephaly
Retrocollis
Dystonia, generalized
Dystonia, laryngeal
Dystonia, jaw
Dystonia (any or unspecified)
Dystonia, leg
Anarthria
Dystonia, limb
Torticollis
Dystonia, foot
Show more (+10)
Dystonia, leg
Dystonia, foot
Yes
n.g.
n.g.
6
No
Dysarthria
Dystonia, laryngeal
Dystonia (any or unspecified)
Dystonia, limb
Anarthria
Dysmorphic features
Short stature
Dystonia, tongue
Dystonia, foot
Dystonia, generalized
Dystonia, leg
Show more (+8)
Dystonia, foot
Dystonia, leg
Yes
n.g.
n.g.
8
No
Dystonia, limb
Dystonia, hand
Dystonia, generalized
Dystonia, laryngeal
Dysphonia
Delayed speech and language development
Dystonia, arm
Dysmorphic features
Dysarthria
Myoclonus
Dystonia, leg
Dystonia (any or unspecified)
Show more (+9)
Dystonia, hand
Dystonia, arm
Yes
n.g.
n.g.
3
No
Dystonia, leg
Dystonia, laryngeal
Dysmorphic features
Dystonia, foot
Dystonia, generalized
Dysarthria
Dystonia (any or unspecified)
Dystonia, limb
Dysphonia
Show more (+6)
Dystonia, leg
Dystonia, foot