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614557.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Cutis laxa; Joint hypermobility; Global developmental delay; Abnormal facial shape; Microcephaly; Hypotonia; Waddling gait; Myopathy; Patent ductus arteriosus
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Sex
Male
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_017946.4:c.197+5_197+8del
2
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
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References
Alazami et al, 2016
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