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