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