Global Variome shared LOVD

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Phenotype #0000295561 Individual ID 00402795 Associated disease LRS Phenotype details congenital glaucoma, buphthalmos, palpebral edema, ecchymosis, corneal opacity, abnormality iris morphology, posterior vitreous detachment, Disproportionate short stature, hypotonia, patent foramen oval. Diagnosis/Initial posterior vitreous detachment Inheritance Familial, autosomal recessive Diagnosis/Definite Larsen syndrome Age/Examination 00y01m (1 month) Age/Diagnosis - Age/Onset - Phenotype/Onset abnormality iris morphology, buphthalmos Protein - Owner name Miriam Erandi Reyna-Fabián Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Miriam Erandi Reyna-Fabián Date created 2022-02-10 19:10:03 +01:00 (CET) Date last edited 2022-02-16 11:05:12 +01:00 (CET)

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