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