Global Variome shared LOVD

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Phenotype #0000351291 Individual ID 00465844 Associated disease ? Diagnosis/Initial joint laxity Diagnosis/Definite BCS1 Phenotype details see paper; ..., Blue sclera, corneal fragility, joint hypermobility, severe kyphoscoliosis (some requiring spinal fusion surgery), positive Steinberg thumb sign, arachnodactyly, hallux valgus, sensorineural hearing loss, thin velvety skin, (phenylketonuria in one of the siblings who had the mildest ocular and skeletal symptoms in the group) Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-06-07 12:17:17 +02:00 (CEST) Date last edited N/A

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