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