Global Variome shared LOVD

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Phenotype #0000270846 Individual ID 00375633 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite JDVS Inheritance Unknown Phenotype details see paper; ..., height SD−2.6; weight SD−4.9; severe intellectual disability ; hypotonia; autism spectrum disorder; broad forehead; upturned nose; thin upper lip; no broad mouth; feeding difficulty; gastro esophageal reflux and/or vomiting; constipation; small hands; small feet; bilateral parietal foramina, exostoses, diaphragmatic hernia, volvulus intestine (confirmed diagnosis Potocki-Shaffer syndrome); strabismus, nystagmus, iridocyclitis, retinal detachment; recurrent infections Age/Examination 7y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-06-14 16:11:36 +02:00 (CEST) Date last edited N/A

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