Global Variome shared LOVD

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Phenotype #0000270838 Individual ID 00375625 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite JDVS Inheritance Isolated (sporadic) Phenotype details see paper; ..., birth weight 3,527kg; OFC SD−0.5; intellectual disability; hypotonia; broad-based gait; normal behavior; feeding difficulty; constipation; hyperlordosis; periodic illnessc; bilateral cryptorchidism; no vision problems; hypoplastic toenails Age/Examination 5y (5 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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