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