Global Variome shared LOVD

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Phenotype #0000311158 Individual ID 00419889 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite CSS10 Phenotype details no failure to thrive; dysphagia; no hypotonia; speech delay; behavioral problems; no hyperactivity/ADHD; no anxiety; autism; difficulty with sleep; no danger awareness; no microcephaly; seizures; no myopia; intermittent exotropia; amblyopia; hyperopia; astigmatism; normal hearing; slightly prominent forehead, epicanthal folds; hypertelorism; deep-set eyes,, broad and flat nasal bridge; cupid's bow, high arched palate; ankles "pops" on examination; no ventricular septal defect; no atrial septal defect; patent foramen; mildly dilated aortic root and ascending aorta; constipation; congenital hydronephrosis, ureteral duplication, congenital ureterocele, stage 4 vesicoureteral reflux Inheritance Unknown Age/Examination - 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 2022-10-24 18:06:51 +02:00 (CEST) Date last edited N/A

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