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