Global Variome shared LOVD

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Phenotype #0000359933 Individual ID 00475220 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder, joint hypermobility Diagnosis/Definite ?;BTDD Phenotype details see paper; ..., premature delivery; motor delay; hypotonia (infancy); 12m-sit; 4y-walk; speech delay; intellectual disabilit; muscle tone; no seizures; joint hypermobility; no limb contractures; no skin laxity; no scoliosis; no blue sclera; microcephaly (OFC 45cm), high bossed forehead, thick bushy eye brows, long wide eye ; patent foramen ovale, lLeft ventricle false tendon; 4y-MRI brain unremarkable Inheritance Familial, autosomal recessive Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-04-04 15:14:06 +02:00 (CEST) Date last edited 2026-04-04 16:26:42 +02:00 (CEST)

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