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