Global Variome shared LOVD

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

Phenotype #0000155159 Individual ID 00207388 Associated disease HPMRS4;GPIBD10 Phenotype details Severe psychomotor delay, ID, delay speech, behaviour difficulties, seizures, Facial dysmorphism, Muscular hypotonia, MRI abnormalities (cortical dysplasia), cleft palate, High ALP levels (>600 U/L) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 07y (7 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 19:56:06 +01:00 (CET) Date last edited N/A

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