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