Barrett, 2017: Overview of all reported MxMD-ADCY5 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
8
24
Yes
Delayed speech and language development
Dyskinesia
Dystonia, generalized
Dystonia, limb
Gait impairment
-Motor
Dystonia, hand
Myoclonus
Dystonia, cervical
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n.a.
Yes
n.a.
n.a.
3
27
Yes
-Motor
Motor delay
Gait impairment
Dystonia, limb
Delayed speech and language development
Delayed gross motor development
Dystonia, generalized
Dyskinesia
Myoclonus
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n.a.