Global Variome shared LOVD

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Phenotype #0000352810 Individual ID 00467599 Associated disease ALAZS Phenotype details see paper; ..., weight 43kg (-0.4 SD), height 128(-4.1 SD), OFC 52 (-1.25 SD); broad nose; short philtrum; triangular face; intellectual disability; early developmental delay; seizure; cutis marmorata; collecting system anomaly; truncal obesity, acne vulgaris Diagnosis/Initial hyperoxaluria Inheritance Familial, autosomal recessive Diagnosis/Definite HP1 Age/Examination 13y (13 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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