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