Dai, 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
|
2
|
10
|
n.a.
|
Dystonia (any or unspecified)
Global developmental delay Dystonia, axial Moderate global developmental delay Dystonia,task-specific Dystonia, craniofacial Dystonia, leg Delayed speech and language development Dystonia, generalized Dysphonia Dystonia, limb Motor delay Cognitive impairment Dystonia, tongue Dystonia, laryngeal Dystonia, arm Severe global developmental delay Dystonia, foot Dystonia, cervical Show more (+16) |
n.a.
|