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