Global Variome shared LOVD

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

Phenotype #0000155163 Individual ID 00207392 Associated disease HPMRS4;GPIBD10 Phenotype details Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, skeletal abnormalities (congenital hip dysplasia), opthalmological abnormalities (megalocornea), Heart abnormalities (Small ASD), Cleft palate, High ALP levels (1212 U/L) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 00y00m01d (1 day) 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 20:21:17 +01:00 (CET) Date last edited N/A

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