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