Global Variome shared LOVD

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Phenotype #0000155161 Individual ID 00207390 Associated disease HPMRS4;GPIBD10 Phenotype details Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, heart abnormalities (multiple atrial septal defect (ASD)), cleft palate, Other findings (abnormal teeth), High ALP levels (>800 U/L) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 08y (8 years) 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 2018-11-20 20:11:07 +01:00 (CET) Date last edited N/A

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