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.
|
Delayed speech and language development
Dystonia, cervical Dystonia, axial Motor delay Dystonia, limb Dysmorphic features Short stature Dysphonia Dystonia (any or unspecified) Torticollis Dystonia, generalized Geste antagoniste Global developmental delay Dystonia, laryngeal Dystonia,task-specific Moderate global developmental delay Microcephaly Cognitive impairment Show more (+15) |
n.a.
|