Global Variome shared LOVD

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Phenotype #0000245781 Individual ID 00327462 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., 8m-leg bowing; 2y-hyperopic astigmatism; retinal dystrophy (HP:0000556); 3y-shortened and thickened ribs; narrow chest (HP:0000774), scoliosis (HP:0002650), short stature (HP:0004322) Inheritance Familial, autosomal recessive Age/Examination 30y (30 years) Age/Diagnosis - Age/Onset - Phenotype/Onset hyperopic astigmatism Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Mariah De Bruin Database submission license No license selected Created by Johan den Dunnen Date created 2021-01-22 11:42:37 +01:00 (CET) Date last edited N/A

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