Global Variome shared LOVD

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Phenotype #0000230374 Individual ID 00303298 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details height 162.6 cm (SD −1.6), weight 67.5kg (SD 0.40); mild developmental delay/intellectual disability; 14m-walk; 2.5y-first words, 3y-speech therapy; no regression; no seizures; ultrasound brain normal; no muscular hypotonia; autistic features in infancy; ventricle septum defect, bicuspid aortic valve, hypoplastic aortic arch, dilated cardiomyopathy; unilateral agenesis; cryptorchidism; tracheesophageal fistula, imperforate anus; sacrum segmentation anomaly, brachydactyly; tethered cord, hypothyroidism Inheritance Isolated (sporadic) Age/Examination 16y (16 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 2020-06-09 19:07:12 +02:00 (CEST) Date last edited 2020-08-08 22:55:54 +02:00 (CEST)

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