Carecchio, 2019: Overview of all reported DYT-KMT2B patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
ITA
|
4
|
21
|
n.a.
|
Dystonia, lower face
Dystonia, oromandibular Dystonia (any or unspecified) Short stature Dystonia, craniofacial Dysmorphic features Dystonia, laryngeal Microcephaly Dystonia, axial Dystonia, foot Anarthria Parkinsonism Dystonia, limb Dystonia, generalized Show more (+11) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
4
|
44
|
n.a.
|
Dysmorphic features
Dystonia (any or unspecified) Cognitive impairment Dystonia, foot Dystonia, laryngeal Dystonia, generalized Dystonia, craniofacial Dystonia, limb Dystonia, oromandibular Anarthria Dystonia, axial Dystonia, lower face Show more (+9) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
7
|
17
|
n.a.
|
Short stature
Dystonia, cervical Dystonia, hand Dystonia, foot Hyperreflexia Cognitive impairment Dystonia (any or unspecified) Dystonia,task-specific Dystonia, generalized Dysarthria Dystonia, limb Dystonia, arm Dysmorphic features Dystonia, axial Dystonia, laryngeal Microcephaly Show more (+13) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
10
|
52
|
n.a.
|
Dystonia, craniofacial
Dystonia, lower face Dysmorphic features Dystonia, limb Dystonia, laryngeal Cognitive impairment Dystonia, generalized Dystonia (any or unspecified) Dystonia, oromandibular Dystonia, axial Anarthria Dystonia, foot Show more (+9) |
n.a.
|