Global Variome shared LOVD

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Phenotype #0000359932 Individual ID 00475219 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder, joint hypermobility Diagnosis/Definite - Phenotype details see paper; ..., prenatal unremarkable; motor delay; hypotonia (infancy); 16m-sit; 2y6m-walk; speech delay; intellectual disabilit; good social interaction with parents, difficulties with emotional regulation; hypotonia; short episodes eye-rolling over course of week; joint hypermobility; no limb contractures; no skin laxity; epicanthal folds, low anterior hairline, slight pectus excavatum; small ASD, 4y-normal on follow-up ; MRI brain gracile hippocampus which leads to bilaterally dilated temporal horns; EEG normal; bilateral myopia, reduced hearing, small ASD (hemodynamic significance), narrow auditory canal R-side Inheritance Familial, autosomal recessive Age/Examination 6y (6 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 N/A

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