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
7
44
n.a.
Dystonia, arm
Dystonia (any or unspecified)
Anarthria
Dystonia, oromandibular
Dysmorphic features
Delayed speech and language development
Dystonia, cervical
Dystonia, axial
Dystonia, generalized
Hyperreflexia
Short stature
Dystonia, foot
Dystonia, limb
Dystonia, laryngeal
Global developmental delay
Show more (+12)
n.a.
Yes
C
VEN
6
10
n.a.
Hyperreflexia
Dysmorphic features
Dystonia, limb
Dystonia (any or unspecified)
Short stature
Delayed speech and language development
Dystonia, generalized
Dystonia, axial
Cognitive impairment
Show more (+6)
n.a.
Yes
C
ITA
13
16
n.a.
Torticollis
Dystonia (any or unspecified)
Dystonia, focal
Dystonia, cervical
Show more (+1)
n.a.
Yes
C
ITA
6
18
n.a.
Dystonia, laryngeal
Dystonia, hand
Dystonia, generalized
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, foot
Dysphonia
Hyperreflexia
Dystonia, arm
Dystonia, limb
Cognitive impairment
Short stature
Dystonia, leg
Dystonia, axial
Show more (+11)
n.a.
Yes
C
ITA
6
22
n.a.
Dysmorphic features
Short stature
Dystonia, axial
Dystonia, lower face
Dystonia, craniofacial
Dystonia, oromandibular
Dystonia, limb
Dystonia, generalized
Dystonia, foot
Delayed speech and language development
Dystonia (any or unspecified)
Show more (+8)
n.a.
Yes
C
ITA
5
35
n.a.
Dystonia, foot
Dystonia, craniofacial
Dystonia (any or unspecified)
Dystonia, axial
Dystonia, laryngeal
Dystonia, lower face
Dystonia, limb
Dystonia, oromandibular
Dystonia, arm
Dystonia, generalized
Hyperreflexia
Dystonia, hand
Short stature
Dysarthria
Show more (+11)
n.a.
Yes
C
ITA
10
24
n.a.
Dystonia, oromandibular
Dystonia, axial
Dystonia, lower face
Dystonia, generalized
Dystonia, limb
Dystonia, craniofacial
Dystonia (any or unspecified)
Show more (+4)
n.a.
Yes
C
ITA
4
30
n.a.
Dysmorphic features
Dystonia, limb
Dystonia, axial
Dystonia (any or unspecified)
Dystonia, cervical
Myoclonus
Dystonia, generalized
Dystonia, foot
Show more (+5)
n.a.
Yes
C
ITA
3
22
n.a.
Dystonia, foot
Dystonia, axial
Dystonia, generalized
Dysmorphic features
Short stature
Dystonia (any or unspecified)
Dystonia, limb
Cognitive impairment
Show more (+5)
n.a.
Yes
C
ITA
4
25
n.a.
Dystonia, axial
Dystonia, generalized
Hyperreflexia
Dystonia, limb
Dystonia, arm
Dystonia, leg
Dystonia, hand
Short stature
Dystonia (any or unspecified)
Dystonia, foot
Dystonia, oromandibular
Dystonia, craniofacial
Dystonia, cervical
Dystonia, laryngeal
Dystonia, lower face
Show more (+12)
n.a.