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