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