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.
|
Motor delay
Dystonia, foot Dystonia, cervical Dystonia, leg Microcephaly Cognitive impairment Dystonia, limb Global developmental delay Dysmorphic features Dystonia, generalized Dystonia, craniofacial Dystonia (any or unspecified) Delayed speech and language development Dysarthria Dystonia, axial Dystonia, tongue Dystonia, arm Show more (+14) |
Dystonia, leg
|
|
Yes
|
♀
|
C
|
AUT
|
4
|
6
|
n.a.
|
Dysmorphic features
Dystonia, limb Dystonia, generalized Dystonia, axial Dystonia (any or unspecified) Dystonia, foot Delayed speech and language development Dystonia, leg Cognitive impairment Dystonia, cervical Microcephaly Short stature Show more (+9) |
Dystonia, foot
|
|
Yes
|
♀
|
C
|
DEU
|
3
|
11
|
n.a.
|
Dysmorphic features
Dystonia, arm Dystonia, foot Microcephaly Dystonia (any or unspecified) Short stature Dystonia, generalized Cognitive impairment Dystonia, limb Dystonia, leg Dystonia, axial Motor delay Show more (+9) |
Dystonia, leg
|
|
Yes
|
♀
|
C
|
AUT
|
7
|
31
|
n.a.
|
Dystonia, limb
Dystonia, hand Dystonia, leg Dystonia, cervical Dystonia, lower face Dysarthria Dystonia, axial Dystonia, generalized Dystonia, arm Dystonia, tongue Dystonia, craniofacial Dystonia, laryngeal Dystonia, foot Dystonia (any or unspecified) Show more (+11) |
Dystonia, hand
Dystonia, foot |
|
No
|
♂
|
C
|
AUT
|
11
|
61
|
n.a.
|
Dystonia (any or unspecified)
Global developmental delay Tremor, action Tremor (any or unspecified) Tremor, limb Dystonia, arm Dystonia, hand Delayed speech and language development Dystonia, focal Dystonia,task-specific Dystonia, limb Mild global developmental delay Dysarthria Cognitive impairment Show more (+11) |
Dystonia, arm
Dystonia, hand |
|
No
|
♂
|
C
|
AUT
|
9
|
36
|
n.a.
|
Cognitive impairment
Delayed speech and language development Dysarthria Dystonia,task-specific Dystonia, arm Mild global developmental delay Dystonia, hand Dystonia (any or unspecified) Dysmorphic features Microcephaly Dystonia, limb Short stature Global developmental delay Dystonia, focal Show more (+11) |
Dystonia, arm
Dystonia, hand |