Zech, 2016: Overview of all reported DYT-KMT2B patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
DEU
11
15
n.a.
Dystonia (any or unspecified)
Dystonia, cervical
Delayed speech and language development
Motor delay
Dystonia, generalized
Dystonia, foot
Dystonia, limb
Microcephaly
Dystonia, arm
Dystonia, axial
Dystonia, leg
Cognitive impairment
Global developmental delay
Dysarthria
Dysmorphic features
Dystonia, craniofacial
Dystonia, tongue
Show more (+14)
Dystonia, leg
Yes
C
AUT
4
6
n.a.
Microcephaly
Cognitive impairment
Dystonia, cervical
Dysmorphic features
Dystonia, limb
Delayed speech and language development
Dystonia (any or unspecified)
Short stature
Dystonia, foot
Dystonia, leg
Dystonia, generalized
Dystonia, axial
Show more (+9)
Dystonia, foot
p.Gln810*: het
Yes
C
DEU
3
11
n.a.
Dystonia, foot
Cognitive impairment
Short stature
Dystonia (any or unspecified)
Motor delay
Microcephaly
Dystonia, leg
Dysmorphic features
Dystonia, arm
Dystonia, generalized
Dystonia, limb
Dystonia, axial
Show more (+9)
Dystonia, leg
p.Arg545*: het
Yes
C
AUT
7
31
n.a.
Dystonia, lower face
Dystonia, axial
Dystonia, cervical
Dystonia, arm
Dystonia (any or unspecified)
Dystonia, craniofacial
Dystonia, foot
Dystonia, laryngeal
Dysarthria
Dystonia, hand
Dystonia, limb
Dystonia, generalized
Dystonia, leg
Dystonia, tongue
Show more (+11)
Dystonia, foot
Dystonia, hand
No
C
AUT
11
61
n.a.
Dysarthria
Tremor (any or unspecified)
Dystonia, hand
Mild global developmental delay
Dystonia, limb
Tremor, action
Delayed speech and language development
Dystonia, focal
Cognitive impairment
Dystonia,task-specific
Dystonia (any or unspecified)
Tremor, limb
Global developmental delay
Dystonia, arm
Show more (+11)
Dystonia, hand
Dystonia, arm
p.Gln810*: het
No
C
AUT
9
36
n.a.
Dystonia, focal
Dystonia,task-specific
Delayed speech and language development
Microcephaly
Global developmental delay
Dysmorphic features
Dystonia (any or unspecified)
Short stature
Dystonia, hand
Cognitive impairment
Dysarthria
Dystonia, arm
Mild global developmental delay
Dystonia, limb
Show more (+11)
Dystonia, hand
Dystonia, arm
p.Gln810*: het