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