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