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