Global Variome shared LOVD

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Phenotype #0000352805 Individual ID 00467594 Associated disease ALAZS Phenotype details see paper; ..., weight 15kg (-2.5 SD), height 102cm (-5 SD), OFC 48 (-2.4 SD); broad nose; deep-seated eyes; low set ears; triangular face; narrow and short palpebral fissure; sparse eyebrows; malar hypoplasia; intellectual disability; early developmental delay; myopia/hypermetropia; strabismus; blue sclera; mild conductive hearing loss Diagnosis/Initial hyperoxaluria Inheritance Familial, autosomal recessive Diagnosis/Definite HP1 Age/Examination 6y (6 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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