Ma, 2019: 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
|
CHN
|
24
|
31
|
n.a.
|
Dystonia (any or unspecified)
Dystonia,task-specific Dysmorphic features Dystonia, laryngeal Dysphonia Dystonia, segmental/multifocal Dystonia, limb Short stature Dystonia, leg Dysarthria Microcephaly Show more (+8) |
n.a.
|
|
Yes
|
♀
|
A
|
CHN
|
18
|
33
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, axial Dystonia, limb Dystonia,task-specific Torticollis Dystonia, generalized Dystonia, hand Dystonia, cervical Show more (+5) |
Dystonia, hand
|
|
Yes
|
♀
|
A
|
CHN
|
7
|
15
|
n.a.
|
Dystonia,task-specific
Dystonia, segmental/multifocal Dystonia, hand Dystonia, foot Dysphonia Dystonia, limb Dystonia, laryngeal Dysarthria Dystonia (any or unspecified) Show more (+6) |
Dystonia, foot
|