Global Variome shared LOVD

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Phenotype #0000356806 Individual ID 00471997 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., brith 40w; moderate developmental delay; mild intellectual disability; moderate speech delay; no autism; hypotonia; no seizures; MRI normal; synophrys, arched eyebrows, narrow bifrontal diameter, small oral opening; pectus excavatum, contracture left 5th finger; pulmonic stenosis, atrioseptal defects (x2), birth patent ductus arteriosus/patent foramen ovale; normal kidneys; anteriorly placed anus; 3 hemangiomas, precocious puberty; birth poor suck; feeding difficulties (G-tube fed); overgrowth Inheritance Isolated (sporadic) Age/Examination 4y (4 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 2026-01-05 12:55:15 +01:00 (CET) Date last edited N/A

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