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, lower face
Dystonia, generalized Dystonia, craniofacial Dystonia, laryngeal Dystonia, arm Dystonia, hand Dystonia, jaw Tremor (any or unspecified) Cognitive impairment Dysmorphic features Global developmental delay Severe global developmental delay Microcephaly Short stature Dystonia, limb Dystonia, axial Dystonia (any or unspecified) Dystonia, leg Anarthria Dystonia, foot Myoclonus Motor delay Dystonia, cervical Dystonia, oromandibular Show more (+21) |
n.a.
|