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