Global Variome shared LOVD

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Phenotype #0000187373 Individual ID 00248379 Associated disease NDD Diagnosis/Initial developmental delay Diagnosis/Definite CHOPS Phenotype details see paper; …, Synophrys, coarse appearance to features; birth weight 2,070 g (−1.5 SD), height 43 cm (−1.9 SD), head circumference 29 cm (−3.23 SD); latest weight 10th centile, height 90 cm (−6.1SD), head circumferance 3rd centile; None reported; History of aspirations; Mixed hearing loss; Brachydactyly; no genitourinary reported; no GI reported; Mild myopia with strabismus, skin changes (sun exposed erythema and mottling of his skin) Inheritance Isolated (sporadic) Age/Examination 07y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-07-22 21:27:37 +02:00 (CEST) Date last edited 2019-07-22 21:49:33 +02:00 (CEST)

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