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