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