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