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