Global Variome shared LOVD

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Phenotype #0000155157 Individual ID 00207386 Associated disease HPMRS4;GPIBD10 Phenotype details Severe psychomotor delay, ID, delay speech, behaviour difficulties, seizures, facial dysmorphism, muscular hypotonia, MRI abnormalities (Dandy walker malformation), High ALP levels (703 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 19:20:00 +01:00 (CET) Date last edited N/A

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