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617821.1
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Subject Details
Country
Lebanon
HPO Terms
Joint hypermobility; Hip dislocation; Hyperextensible skin; Atypical scarring of skin
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Sex
Male
Family History
No
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000089.4:c.279+1G>A
1
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
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References
Lehmann et al. 1994
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