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