Kawarai, 2018: Overview of all reported DYT-KMT2B patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
JPN
|
8
|
22
|
n.a.
|
Short stature
Motor delay Dystonia, hand Cognitive impairment Dystonia, axial Dystonia, cervical Dystonia, limb Dystonia (any or unspecified) Global developmental delay Dystonia,task-specific Dysphonia Dystonia, generalized Dystonia, laryngeal Dystonia, arm Microcephaly Show more (+12) |
Dystonia, hand
|
|
Yes
|
♂
|
A
|
JPN
|
6
|
18
|
n.a.
|
Microcephaly
Dystonia (any or unspecified) Dystonia, cervical Global developmental delay Short stature Dystonia, limb Myoclonus Dystonia, generalized Cognitive impairment Dystonia, foot Motor delay Dystonia, axial Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
JPN
|
5
|
15
|
n.a.
|
Dystonia, limb
Myoclonus Cognitive impairment Global developmental delay Dystonia, generalized Short stature Dysphonia Delayed speech and language development Dystonia, leg Dystonia, foot Microcephaly Dystonia, laryngeal Dystonia (any or unspecified) Dystonia, arm Dystonia, axial Muscular hypotonia Motor delay Dystonia, cervical Show more (+15) |
Dystonia, foot
|
|
Yes
|
♀
|
A
|
JPN
|
6
|
16
|
n.a.
|
Dystonia, craniofacial
Dysarthria Dystonia, cervical Dystonia (any or unspecified) Dysphonia Dystonia, laryngeal Dystonia, limb Dystonia, generalized Microcephaly Dysmorphic features Motor delay Global developmental delay Dystonia, axial Show more (+10) |
n.a.
|