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206920.2
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Subject Details
Country
Lebanon
HPO Terms
Anophthalmia; Unilateral oligodactyly; Synostosis involving the 2nd metacarpal; Synostosis involving the 3rd metacarpal; Metatarsal synostosis; Polydactyly; Talipes valgus;
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Sex
Male
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001034852.3:c.664+1G>A
2
Microphthalmia with Limb Anomalies
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References
Okada et al. 2011;
Hamanoue et al. 2009
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