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