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