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