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