Global Variome shared LOVD

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Phenotype #0000155165 Individual ID 00207394 Associated disease HPMRS4;GPIBD10 Phenotype details Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, MRI abnormalities (hypoplasia of cerebral vermis), skeletal abnormalities (captodactly of 5th finger), Cleft palate, Other findings (abnormal teeth), High ALP levels (848 U/L) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 13y (13 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 20:30:52 +01:00 (CET) Date last edited N/A

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