Please log on to access all functions of the MDSGene database.

Meyer, 2017: 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.
2
20
No
Dystonia, foot
Dysphonia
Dystonia, limb
Dysmorphic features
Dystonia, laryngeal
Dystonia, leg
Dystonia (any or unspecified)
Dystonia, oromandibular
Dystonia, generalized
Dysarthria
Show more (+7)
Dystonia, foot
Dystonia, leg
p.Tyr1515*: hom
Yes
n.a.
n.a.
4
7
No
Dysmorphic features
Mild global developmental delay
Dystonia, segmental/multifocal
Dystonia (any or unspecified)
Short stature
Delayed speech and language development
Cognitive impairment
Dystonia, leg
Dystonia, foot
Dystonia, limb
Global developmental delay
Motor delay
Show more (+9)
Dystonia, leg
Dystonia, foot
Yes
n.a.
n.a.
4
6
No
Dystonia (any or unspecified)
Dystonia, laryngeal
Seizures
Cognitive impairment
Dysmorphic features
Dysarthria
Dystonia, foot
Dystonia, limb
Dystonia, generalized
Delayed speech and language development
Dystonia, leg
Show more (+8)
Dystonia, foot
Dystonia, leg
p.Arg564*: hom
Yes
n.a.
n.a.
2
28
No
Dystonia, jaw
Dystonia, limb
Delayed speech and language development
Dystonia, leg
Short stature
Dystonia, foot
Dystonia, generalized
Dystonia, tongue
Dystonia, laryngeal
Dystonia, cervical
Dystonia (any or unspecified)
Dysmorphic features
Torticollis
Anarthria
Show more (+11)
Dystonia, leg
Dystonia, foot
Yes
n.a.
n.a.
8
11
No
Dystonia, limb
Dystonia, arm
Dystonia (any or unspecified)
Cognitive impairment
Dysphonia
Dystonia, leg
Motor delay
Tremor (any or unspecified)
Dystonia, hand
Dysmorphic features
Dysarthria
Dystonia, generalized
Dystonia, laryngeal
Show more (+10)
Dystonia, arm
Dystonia, hand
Yes
n.a.
n.a.
8
8
Yes
Dystonia, cervical
Dystonia, generalized
Dystonia, jaw
Retrocollis
Dysmorphic features
Dystonia (any or unspecified)
Show more (+3)
Dystonia, cervical
Dystonia, jaw
Yes
n.a.
n.a.
3
10
n.a.
Anarthria
Dystonia, cervical
Dystonia, laryngeal
Dystonia, limb
Retrocollis
Dysarthria
Dystonia, jaw
Dystonia, foot
Torticollis
Dystonia, generalized
Dystonia, leg
Dystonia (any or unspecified)
Microcephaly
Show more (+10)
Dystonia, foot
Dystonia, leg
Yes
n.a.
n.a.
6
27
No
Dystonia, tongue
Dystonia (any or unspecified)
Dystonia, laryngeal
Anarthria
Dystonia, leg
Dystonia, generalized
Dystonia, foot
Dysarthria
Dysmorphic features
Short stature
Dystonia, limb
Show more (+8)
Dystonia, leg
Dystonia, foot
Yes
n.a.
n.a.
8
18
No
Dystonia, arm
Dystonia, limb
Dysmorphic features
Delayed speech and language development
Myoclonus
Dystonia, hand
Dysphonia
Dystonia (any or unspecified)
Dystonia, generalized
Dystonia, laryngeal
Dysarthria
Dystonia, leg
Show more (+9)
Dystonia, arm
Dystonia, hand
Yes
n.a.
n.a.
1
17
No
Dysmorphic features
Dystonia, leg
Dysphonia
Dystonia, foot
Dysarthria
Dystonia, limb
Dystonia, generalized
Short stature
Dystonia (any or unspecified)
Dystonia, laryngeal
Show more (+7)
Dystonia, leg
Dystonia, foot