Global Variome shared LOVD

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Phenotype #0000073653 Individual ID 00095257 Associated disease BAMS Phenotype details complete arhinia; eye coloboma (L) involving the disc, lens and retina, cataract; bilateral bony choanal atresia. Hypoplasia of maxillary sinuses, mild hypertelorism; normal growth; delayed psychomotor development; small apical ventricular septal defect Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 03y (3 years) Age/Diagnosis - 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 2017-01-13 12:30:06 +01:00 (CET) Date last edited 2017-01-13 12:39:09 +01:00 (CET)

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