Global Variome shared LOVD

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Phenotype #0000187372 Individual ID 00248378 Associated disease NDD Diagnosis/Initial developmental delay Diagnosis/Definite CHOPS Phenotype details see paper; …, Synophrys, trace proptosis, small upturned nose with shallow bridge, prominent cheeks, macroglossia, micrognathia, bitemporal narrowing, and microcephaly; birth weight 2,239 g (−2.18 SD), height 43 cm (−2.98 SD), head circumference 29.5 cm (−3.7SD); latest weight 10.82 kg (−1.1 SD), height 73 cm (−4.1 SD), head circumferance 43.5 cm (−2.8 SD) ; PDA, PFO, dilated aortic root; History of pneumonia, chronic lung disease, chronic congestion and noisy breathing, acute chronic respiratory failure, subglottic narrowing of trachea; Mild conductive hearing loss; Disharmonic skeletal maturation of the hands; no genitourinary reported; G tube, dysphagia; Obstruction of nasolacrimal duct, chronic bilateral otitis media, sacral mass (removed), jaundice Inheritance Isolated (sporadic) Age/Examination 02y (2 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 21:48:58 +02:00 (CEST)

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