Gana, 2012: Overview of all reported DYT-KMT2B patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
4
|
14
|
n.a.
|
Dystonia, cervical
Dystonia, oromandibular Dysmorphic features Dystonia (any or unspecified) Anarthria Microcephaly Dystonia, arm Short stature Dystonia, leg Dystonia, foot Cognitive impairment Dystonia, jaw Global developmental delay Severe global developmental delay Dystonia, limb Dystonia, laryngeal Tremor (any or unspecified) Dystonia, craniofacial Motor delay Dystonia, axial Dystonia, hand Dystonia, generalized Dystonia, lower face Myoclonus Show more (+21) |
n.a.
|