Global Variome shared LOVD

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Phenotype #0000021991 Individual ID 00025921 Associated disease HPMRS1;GPIBD2 Phenotype details The patients presented developmental retardation, facial and skeletal anomalies, and hyperphosphatasia. Facial features included hyperthelorism, wide palpebral fissures, broad nasal bridge, downturned corners of mouth. The prsented nail hypoplasia. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2010-11-17 16:14:52 +01:00 (CET) Date last edited N/A

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