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