Global Variome shared LOVD

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Phenotype #0000155168 Individual ID 00207397 Associated disease HPMRS4;GPIBD10 Phenotype details Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, Opthalmological abnormalities (megalocornea), Otological abnormalities (severe bilateral hearing loss), Cleft palate, High ALP levels (890 U/L) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 02y (2 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 20:54:26 +01:00 (CET) Date last edited N/A

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