Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000337255 Individual ID 00448066 Associated disease BCS Diagnosis/Initial brittle cornea syndrome Diagnosis/Definite BCS2 Phenotype details see paper; ..., no corneal rupture; myopia; blue sclera; keratoconus; no keratoglobus; no megalocornea; no poor healing/abnormal scarring; soft skin/easy bruising; no treatment for developmental dysplasia hip; no femoral epiphyseal changes; scoliosis; small joint hypermobility; no fractures; no myalgia; abnormal gait; no deafness; hernia; skin hyperelasticity; genu vara; pes planus; tibial bowing; generalized joint hypermobility Inheritance Familial, autosomal recessive Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-02-14 13:52:54 +01:00 (CET) Date last edited N/A

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