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.
|
Dysphonia
Cognitive impairment Dystonia, laryngeal Dystonia,task-specific Short stature Microcephaly Global developmental delay Motor delay Dystonia (any or unspecified) Dystonia, hand Dystonia, generalized Dystonia, axial Dystonia, limb Dystonia, arm Dystonia, cervical Show more (+12) |
Dystonia, hand
|
|
Yes
|
♂
|
A
|
JPN
|
6
|
18
|
n.a.
|
Short stature
Dystonia, generalized Cognitive impairment Dystonia, foot Microcephaly Motor delay Dystonia, limb Global developmental delay Dystonia, axial Dystonia (any or unspecified) Myoclonus Dystonia, cervical Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
JPN
|
5
|
15
|
n.a.
|
Muscular hypotonia
Motor delay Short stature Cognitive impairment Dystonia, generalized Microcephaly Global developmental delay Dystonia, limb Dystonia, leg Myoclonus Dysphonia Dystonia (any or unspecified) Dystonia, arm Delayed speech and language development Dystonia, laryngeal Dystonia, foot Dystonia, cervical Dystonia, axial Show more (+15) |
Dystonia, foot
|
|
Yes
|
♀
|
A
|
JPN
|
6
|
16
|
n.a.
|
Dystonia, cervical
Dystonia, limb Dystonia, laryngeal Dystonia, craniofacial Motor delay Dysarthria Dystonia (any or unspecified) Dysphonia Dystonia, generalized Microcephaly Dystonia, axial Global developmental delay Dysmorphic features Show more (+10) |
n.a.
|