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