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601552.2
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Subject Details
Country
Lebanon
HPO Terms
Visual loss; Corneal opacity; Abnormal anterior chamber morphology; Lens subluxation; Posterior synechiae of the anterior chamber; Large beaked nose ;
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_004318.3:c.2203C>T
2
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs
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References
Patel et al, 2014;
Mansour et al, 2013
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