Global Variome shared LOVD

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Phenotype #0000179841 Individual ID 00239627 Associated disease BBIS Phenotype details mild to moderate microcephaly, facial dysmorphy, tall forehead, deep set eyes, long nose, epicanthus, low hanging columnella, flat philtrum, retrognathia, severe intellectual disability, speech delay, brain anomalies, no ventricular dilatation, corpus callosum dysgenesis, no cardiac anomalies, no renal anomalies, micropenis, hypospadias Diagnosis/Initial Beaulieu-Boycott-Innes syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite BBIS Age/Examination 03y06m (3 years, 6 months) 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 2019-06-07 17:15:00 +02:00 (CEST) Date last edited N/A

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