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