Global Variome shared LOVD

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Phenotype #0000356538 Individual ID 00471729 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., intrauterine growth restriction; birth 40+1w; neonatal period normal; birth length 47cm (<P1, -2.4 SD), weight 2510g (P2, -2.0 SD), OFC 33cm (P3, -1.9 SD); global developmental delay; delayed speech development; delayed motor development; mild intellectual disability; no developmental regression ; normal behavior; no autism; 2y-walk; 18m-first words; no seizure; normal muscle tone; micrognathia, mildly upslanted palpebral fissures; normal cranial morphology; no hearing loss; pulmonary valve stenosis, small VSD, persistent ductus botalli (PDA) and ASD2, biscuspid aortic valve with aortic insufficience and double aortic arch; partial pancreatic agenesis, duplication left urether, and reflux right kidney, necessitating dilatation and bilateral urether reimplantation because of recurrent infections, recurrent otitis media; umbilical hernia, chronic lymphedema abdomen/scrotal area Inheritance Isolated (sporadic) Age/Examination 25y (25 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 2026-01-03 11:36:42 +01:00 (CET) Date last edited N/A

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