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
Gait impairment
Dystonia, limb
Dystonia, generalized
Dystonia, cervical
Delayed speech and language development
Myoclonus
-Motor
Dyskinesia
Dystonia, hand
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n.a.
Yes
n.a.
n.a.
3
27
Yes
Delayed gross motor development
Delayed speech and language development
-Motor
Dystonia, limb
Myoclonus
Dyskinesia
Motor delay
Gait impairment
Dystonia, generalized
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n.a.