Global Variome shared LOVD

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Phenotype #0000352813 Individual ID 00467602 Associated disease ALAZS Phenotype details see paper; ..., weight 17kg (-2.6 SD), height 106cm (-3.8 SD), OFC 48 (-2.9 SD); broad nose; deep-seated eyes; low set ears; intellectual disability; early developmental delay; stereotypic behavior; myopia/hypermetropia; strabismus; blue sclera; pigmentary retinopathy; crowded optic disks; collecting system anomaly; atrial septal defect Diagnosis/Initial hyperoxaluria Inheritance Familial, autosomal recessive Diagnosis/Definite HP1 Age/Examination 8y (8 years) Age/Diagnosis - 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 2025-10-23 09:44:12 +02:00 (CEST) Date last edited N/A

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