Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000179837 Individual ID 00239623 Associated disease BBIS Phenotype details low-birth weight, low occipital frontal circumference, growth failure, short stature, distinctive facial features, mild-moderate intellectual disability, renal anomalies, language delay, dental malocclusion and caries Diagnosis/Initial Beaulieu-Boycott-Innes syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite BBIS Age/Examination - 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 16:49:23 +02:00 (CEST) Date last edited N/A

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