Global Variome shared LOVD

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Phenotype #0000352877 Individual ID 00467712 Associated disease DD Phenotype details see paper; ..., intrauterine growth restriction, 38w+2-birth, weight 2.100g (-2.51 SD), length 43cm (-3.54 SD), OFC 32cm (-1.35 SD).; dysmorphic features, wide nose, hypertelorism, microcephaly; 20m-walk, expressive language very poor, developmental delay, used gestures/signals to communicate; severe developmental delay, hypersalivation, equinus foot (improved with rehabilitation) Diagnosis/Initial developmental delay Inheritance Familial, autosomal recessive Diagnosis/Definite ALAZS Age/Examination 09y (9 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 2025-10-27 18:26:29 +01:00 (CET) Date last edited N/A

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