Global Variome shared LOVD

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Phenotype #0000352866 Individual ID 00467700 Associated disease SLOS Inheritance Familial, autosomal recessive Diagnosis/Initial Smith-Lemli-Opitz syndrome Diagnosis/Definite ALAZS Age/Onset - Age/Examination 09y (9 years) Phenotype/Onset - Phenotype details see paper; ..., developmental delay, growth retardation, mild intellectual disability (IQ 59), congenital heart defect; prominent forehead, sparse eyebrows, hypertelorism, up-slanting palpebral fissures, large nose, short philtrum, full lips, widely spaced teeth; bilateral partial syndactyly second/third toes 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 15:49:57 +01:00 (CET) Date last edited N/A

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