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