Global Variome shared LOVD

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Phenotype #0000352865 Individual ID 00467699 Associated disease SLOS Inheritance Familial, autosomal recessive Diagnosis/Initial Smith-Lemli-Opitz syndrome Diagnosis/Definite ALAZS Age/Onset - Age/Examination 15y (15 years) Phenotype/Onset - Phenotype details see paper; ..., no intrauterine growth restriction; Developmental delay, recurrent urinary tract infections, hypospadias, strabismus, growth retardation (weight 3rd percentile, height <3rd percentile), microcephaly (OFC <2nd centile), moderate intellectual disability (IQ 44) Biochem - Protein - Severity_score - Age/Diagnosis - 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 15:47:16 +01:00 (CET) Date last edited N/A

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