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