Baizabal-Carvallo, 2018: Overview of all reported DYT-KMT2B patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
H
|
n.a.
|
8
|
13
|
n.a.
|
Dystonia (any or unspecified)
Dystonia,task-specific Torticollis Dystonia, axial Dystonia, laryngeal Geste antagoniste Short stature Dystonia, limb Dystonia, generalized Dysmorphic features Motor delay Microcephaly Cognitive impairment Dysphonia Delayed speech and language development Moderate global developmental delay Global developmental delay Dystonia, cervical Show more (+15) |
n.a.
|