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

Index patientSex Ethnicity Country of originAAO Family history Symptoms Initial symptoms Reported mutations
Yesn.g.n.g.3n.g.Anarthria,
Cervical dystonia,
Dysarthria,
Dystonia (any or unspecified),
Foot dystonia,
Generalized dystonia,
Jaw dystonia,
Laryngeal dystonia,
Leg dystonia,
Limb dystonia,
Microcephaly,
Retrocollis,
Torticollis

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Foot dystonia,
Leg dystonia
c.1-1190950_*321+78009del: n.g.
Yesn.g.n.g.4NoCognitive impairment,
Delayed speech and language development,
Dysmorphic features,
Dystonia (any or unspecified),
Foot dystonia,
Global developmental delay,
Leg dystonia,
Limb dystonia,
Mild global developmental delay,
Motor delay,
Segmental/Multifocal dystonia,
Short stature

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Foot dystonia,
Leg dystonia
c.1-414147_*321+2536044del: n.g.
Yesn.g.n.g.4NoCognitive impairment,
Delayed speech and language development,
Dysarthria,
Dysmorphic features,
Dystonia (any or unspecified),
Foot dystonia,
Generalized dystonia,
Laryngeal dystonia,
Leg dystonia,
Limb dystonia,
Seizures

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Foot dystonia,
Leg dystonia
p.Arg564*: n.g.
Yesn.g.n.g.8NoArm dystonia,
Cognitive impairment,
Dysarthria,
Dysmorphic features,
Dysphonia,
Dystonia (any or unspecified),
Generalized dystonia,
Hand dystonia,
Laryngeal dystonia,
Leg dystonia,
Limb dystonia,
Motor delay,
Tremor (any or unspecified)

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Arm dystonia,
Hand dystonia
p.Glu1009Glyfs*9: n.g.
Yesn.g.n.g.8NoArm dystonia,
Delayed speech and language development,
Dysarthria,
Dysmorphic features,
Dysphonia,
Dystonia (any or unspecified),
Generalized dystonia,
Hand dystonia,
Laryngeal dystonia,
Leg dystonia,
Limb dystonia,
Myoclonus

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Arm dystonia,
Hand dystonia
p.Gly1048Glufs*132: n.g.
Yesn.g.n.g.2NoDysarthria,
Dysmorphic features,
Dysphonia,
Dystonia (any or unspecified),
Foot dystonia,
Generalized dystonia,
Laryngeal dystonia,
Leg dystonia,
Limb dystonia,
Oromandibular dystonia

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Foot dystonia,
Leg dystonia
p.Tyr1515*: n.g.
Yesn.g.n.g.3NoDysarthria,
Dysmorphic features,
Dysphonia,
Dystonia (any or unspecified),
Foot dystonia,
Generalized dystonia,
Laryngeal dystonia,
Leg dystonia,
Limb dystonia

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Foot dystonia,
Leg dystonia
p.Ala1563Aspfs*83: n.g.
Yesn.g.n.g.2NoAnarthria,
Cervical dystonia,
Delayed speech and language development,
Dysmorphic features,
Dystonia (any or unspecified),
Foot dystonia,
Generalized dystonia,
Jaw dystonia,
Laryngeal dystonia,
Leg dystonia,
Limb dystonia,
Short stature,
Tongue dystonia,
Torticollis

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Foot dystonia,
Leg dystonia
p.Ile2694Serfs*44: n.g.
Yesn.g.n.g.6NoAnarthria,
Dysarthria,
Dysmorphic features,
Dystonia (any or unspecified),
Foot dystonia,
Generalized dystonia,
Laryngeal dystonia,
Leg dystonia,
Limb dystonia,
Short stature,
Tongue dystonia

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Foot dystonia,
Leg dystonia
p.Arg1762Cys: n.g.
Yesn.g.n.g.8YesCervical dystonia,
Dysmorphic features,
Dystonia (any or unspecified),
Generalized dystonia,
Jaw dystonia,
Retrocollis

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Cervical dystonia,
Jaw dystonia
p.Arg2517Trp: n.g.