Global Variome shared LOVD

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Phenotype #0000180439 Individual ID 00240374 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details DD/ID, Seizures, Dysmorphic features, Deafness, Ophthalmological anomalies, Hand and feet anomalies, Brain MRI or CT anomalies, Elevated serum alkaline phosphatase Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI pcampeau Diagnosis/Criteria - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2019-06-18 22:51:14 +02:00 (CEST) Date last edited 2019-06-18 23:09:58 +02:00 (CEST)

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