Global Variome shared LOVD

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Phenotype #0000270842 Individual ID 00375629 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite JDVS Inheritance Isolated (sporadic) Phenotype details see paper; ..., birth weight 3,061kg; height SD−2.3; weight SD−2.2; OFC SD−3.1; severe intellectual disability ; hypotonia; broad-based gait; sensitivity to sounds; autism spectrum disorder; broad forehead; low-set, posteriorly rotated ears; no upturned nose; thin upper lip; broad mouth; no feeding difficulty; gastro esophageal reflux and/or vomiting; constipation; small hands; small feet; hyperlordosis; periodic illnessc; high pain threshold; no congenital abnormalities; no vision problems; no hypoplastic nails; recurrent infections Age/Examination 16y (16 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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