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