Global Variome shared LOVD

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Phenotype #0000270841 Individual ID 00375628 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite JDVS Inheritance Isolated (sporadic) Phenotype details see paper; ..., birth weight 2,211kg; height SD<−2.5; weight SD<−2.5; OFC SD<−2.5; mild/moderate intellectual disability; hypotonia; no broad-based gait; sensitivity to sounds; anxiety; broad forehead; no low-set, posteriorly rotated ears; no upturned nose; thin upper lip; no broad mouth; feeding difficulty; infancy gastroesophageal reflux and/or vomiting; infancy constipation; small hands; small feet; hyperlordosis; periodic illnessc; high pain threshold; no congenital abnormalities; myopia, strabismus; hypoplastic fifth toenails Age/Examination 21y (21 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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