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.4YesCognitive impairment,
Dysarthria,
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
c.1-600256_*321+3730del: n.g.
Yesn.g.n.g.3YesCognitive impairment,
Delayed speech and language development,
Dysarthria,
Dysmorphic features,
Dysphonia,
Dystonia (any or unspecified),
Foot dystonia,
Generalized dystonia,
Global developmental delay,
Laryngeal dystonia,
Leg dystonia,
Limb dystonia,
Mild global developmental delay

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Foot dystonia,
Leg dystonia
c.1-1511182_*321+854732del: n.g.
Yesn.g.n.g.3NoAnarthria,
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.4YesCognitive 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.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.3YesDysarthria,
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.1YesCognitive impairment,
Delayed speech and language development,
Dysarthria,
Dysmorphic features,
Dysphonia,
Dystonia (any or unspecified),
Laryngeal dystonia,
Oromandibular dystonia,
Segmental/Multifocal dystonia

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Laryngeal dystoniap.Tyr2688Thrfs*50: n.g.
Yesn.g.n.g.4NoCervical dystonia,
Cognitive impairment,
Dysarthria,
Dysphonia,
Dystonia (any or unspecified),
Foot dystonia,
Generalized dystonia,
Laryngeal dystonia,
Leg dystonia,
Limb dystonia,
Motor delay,
Torticollis

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Foot dystonia,
Leg dystonia
c.3528+2T>A: n.g.
Non.g.n.g.23YesCervical dystonia,
Dysmorphic features,
Dysphonia,
Dystonia (any or unspecified),
Generalized dystonia,
Laryngeal dystonia,
Leg dystonia,
Limb dystonia,
Torticollis

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Cervical dystoniap.Arg2517Trp: n.g.