Global Variome shared LOVD

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Phenotype #0000155169 Individual ID 00207398 Associated disease HPMRS4;GPIBD10 Phenotype details Severe psychomotor delay, ID, delay speech, behaviour difficulties, Seizure (multifocal epileptic foci from both hemispheres), Facial dysmorphism, Muscular hypotonia, skeletal abnormalities (bilateral coxa valga), Opthalmological abnormalities (megalocornea), cleft palate, Other findings (bilateral inguinal hernia, undescended testes, abnormal teeth), High ALP levels (644 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 21:02:46 +01:00 (CET) Date last edited N/A

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