Global Variome shared LOVD

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Phenotype #0000352807 Individual ID 00467596 Associated disease ALAZS Phenotype details see paper; ..., weight 11kg (-3.8 SD), height 91cm (-4.5 SD), OFC 44 (-5.0 SD); broad nose; intellectual disability; early developmental delay; autism spectrum disorder; clinodactyly; atrial septal defect; micropenis Diagnosis/Initial hyperoxaluria Inheritance Familial, autosomal recessive Diagnosis/Definite HP1 Age/Examination 5y (5 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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