Lange, 2017: Overview of all reported DYT-KMT2B patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
DEU
|
4
|
11
|
n.a.
|
Dystonia, hand
Torticollis Dystonia, lower face Dystonia, leg Dystonia (any or unspecified) Dystonia, arm Dystonia, craniofacial Dysphonia Microcephaly Dystonia, oromandibular Tremor (any or unspecified) Cognitive impairment Tremor, limb Dystonia, axial Dystonic tremor Dystonia, cervical Dysarthria Dystonia, generalized Myoclonus Dystonia, limb Show more (+17) |
n.a.
|