Global Variome shared LOVD

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Phenotype #0000086038 Individual ID 00108444 Associated disease del 3pterp25 Phenotype details congenital heart defect, autistic, mental retardation; hypertelorism, ptosis, flat/broad nasal root, long philtrum, downturned corner mouth, low set ears, bilateral overlap 2nd/4th toes over 3rd/5th toes, hypotonic Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Onset 0d Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-04-15 15:58:24 +02:00 (CEST) Date last edited N/A

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