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