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