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