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