Global Variome shared LOVD

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Phenotype #0000352804 Individual ID 00467593 Associated disease ALAZS Phenotype details see paper; ..., broad nose; short philtrum; narrow and short palpebral fissure; intellectual disability; early developmental delay; bilateral proximal radioulnar synostosis. Diagnosis/Initial hyperoxaluria Inheritance Familial, autosomal recessive Diagnosis/Definite HP1 Age/Examination 29y (29 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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