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