Global Variome shared LOVD

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Phenotype #0000230653 Individual ID 00303590 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite IDDSADF Phenotype details birth 39w, weight 2211 g; fetal tachycardia, cord round neck; height 0.4-2 centile, weight 9-25 centile, OFC 75 centile; walk-35m; hypotonia; speech 2y-first words, 4y-mainly repeats words; moderate learning difficulties, 4y-attends mainstream school and special needs nursery, reduced eye contact and sensory processing disorder; conductive hearing loss; Prominent forehead, mild cranial asymmetry, hypotelorism, deep-set eyes, right helix squared off and dimple on lobe, short nose with depressed bridge, upturned nares; MRI brain 11m-mild prominence of ventricular system with normal brain parenchyma; small left kidney (VUR); elbow dimples, deep plantar creases, right lower leg capillary naevus, reduced pain sensation Inheritance Isolated (sporadic) Age/Examination 5y (5 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 2020-06-16 23:30:21 +02:00 (CEST) Date last edited N/A

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