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.
4
14
n.a.
Global developmental delay
Dysphonia
Dysmorphic features
Dystonia (any or unspecified)
Dystonia, laryngeal
Dystonia, leg
Cognitive impairment
Dystonia, generalized
Mild global developmental delay
Dystonia, foot
Dystonia, limb
Dysarthria
Show more (+9)
Dystonia, leg
Dystonia, foot
Yes
n.a.
n.a.
6
18
n.a.
Dystonia, limb
Short stature
Dysphonia
Dysarthria
Dystonia, leg
Dysmorphic features
Cognitive impairment
Dystonia, laryngeal
Dystonia, generalized
Dystonia (any or unspecified)
Show more (+7)
Dystonia, leg
Yes
n.a.
n.a.
9
19
n.a.
Dystonia (any or unspecified)
Dystonia, laryngeal
Dystonia, leg
Dystonia, generalized
Dysmorphic features
Dystonia, limb
Anxiety
Dysphonia
Dystonia, arm
Cognitive impairment
Myoclonus
Depression
Dystonia, hand
Show more (+10)
Dystonia, arm
Dystonia, hand
Yes
n.a.
n.a.
n.a.
20
n.a.
Microcephaly
Dystonia (any or unspecified)
Motor delay
Dystonia, generalized
Cognitive impairment
Dystonia, limb
Delayed speech and language development
Global developmental delay
Dysmorphic features
Dystonia, leg
Dystonia, foot
Show more (+8)
Dystonia, leg
Dystonia, foot
Yes
n.a.
n.a.
6
27
n.a.
Dystonia (any or unspecified)
Short stature
Dystonia, tongue
Dystonia, laryngeal
Dystonia, leg
Dystonia, craniofacial
Anarthria
Dystonia, generalized
Dystonia, limb
Dysmorphic features
Dysarthria
Dystonia, foot
Show more (+9)
Dystonia, leg
Dystonia, foot
Yes
n.a.
n.a.
8
8
n.a.
Dysmorphic features
Retrocollis
Dystonia, jaw
Dystonia (any or unspecified)
Dystonia, craniofacial
Dystonia, cervical
Dystonia, focal
Dystonia, laryngeal
Show more (+5)
Dystonia, jaw
Yes
n.a.
n.a.
3
9
No
Dysphonia
Dystonia, laryngeal
Dysmorphic features
Dystonia, limb
Delayed speech and language development
Mild global developmental delay
Dysarthria
Dystonia (any or unspecified)
Global developmental delay
Dystonia, leg
Cognitive impairment
Dystonia, foot
Dystonia, generalized
Show more (+10)
Dystonia, leg
Dystonia, foot
Yes
n.a.
n.a.
8
19
n.a.
Dystonia (any or unspecified)
Dystonia, limb
Dysarthria
Torticollis
Dysmorphic features
Dystonia, generalized
Dystonia, foot
Dysphonia
Dystonia, cervical
Dystonia, laryngeal
Dystonia, leg
Show more (+8)
Dystonia, foot
Dystonia, leg
Yes
n.a.
n.a.
8
11
n.a.
Dystonia (any or unspecified)
Dystonia, arm
Dystonia, generalized
Dysphonia
Dysmorphic features
Tremor (any or unspecified)
Motor delay
Dystonia, hand
Dysarthria
Dystonia, limb
Dystonia, laryngeal
Dystonia, leg
Cognitive impairment
Show more (+10)
Dystonia, arm
Dystonia, hand
Yes
n.a.
n.a.
1
17
n.a.
Dystonia, laryngeal
Dystonia, foot
Dysmorphic features
Dysarthria
Dystonia, leg
Dystonia, generalized
Dystonia, limb
Short stature
Dysphonia
Dystonia (any or unspecified)
Show more (+7)
Dystonia, foot
Dystonia, leg