Global Variome shared LOVD

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Phenotype #0000270837 Individual ID 00375624 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite JDVS Inheritance Isolated (sporadic) Phenotype details see paper; ..., birth weight 3,742kg; height SD0; weight SD0; OFC SD−0.5; intellectual disability; hypotonia; broad-based gait; sensitivity to sounds; sensory integration problems, hyperarousal, short attention; no broad forehead; low-set, posteriorly rotated ears (right); no upturned nose; thin upper lip; no broad mouth; feeding difficulty; gastro esophageal reflux and/or vomiting; constipation; no small hands; no small feet; no hyperlordosis; no periodic illnessc; high pain threshold; no congenital abnormalities; myopia, strabismus, astigmatism, CVI; no hypoplastic nails; no recurrent infections Age/Examination 2y (2 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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