Global Variome shared LOVD

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Phenotype #0000340354 Individual ID 00451694 Associated disease Traboulsi Phenotype details Facial dysmorphic features were remarkable including long appearance, retrognathia, malar hypoplasia, and dental malocclusion.The lens was subluxated anteriorly with a shallow anterior chamber bilaterally. As is quantified by AS-OCT, the lens had reduced equatorial d Diagnosis/Initial ectopia lentis Inheritance Familial, autosomal recessive Diagnosis/Definite Traboulsi syndrome Age/Examination - Age/Diagnosis 05y Age/Onset - Phenotype/Onset - Protein - Owner name Wannan Jia Database submission license No license selected Created by Wannan Jia Date created 2024-06-30 12:07:48 +02:00 (CEST) Date last edited 2024-07-01 11:36:32 +02:00 (CEST)

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