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