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
|
|
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
|
|
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 |
|
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 |