Global Variome shared LOVD

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Phenotype #0000119262 Individual ID 00146521 Associated disease RD Diagnosis/Initial - Diagnosis/Definite - Phenotype details 4d-tight, translucent skin, prominent vessels, skin erosions, hypertelorism, antimongoloid axis, sparse eyelashes/eyebrows, pinched nose, natal teeth, microretrognathia and O-shaped mouth, multiple joint contractures, dysplastic clavicles, thin ribs; death from respiratuar distress Inheritance Isolated (sporadic) Age/Examination - Age/Onset - 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 2009-05-25 22:32:01 +02:00 (CEST) Date last edited 2013-02-01 15:00:48 +01:00 (CET)

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