Global Variome shared LOVD

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Phenotype #0000359927 Individual ID 00475214 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder, joint hypermobility Diagnosis/Definite - Phenotype details see paper; ..., prenatal suspected craniosynostosis; motor delay; hypotonia (infancy); 11m-sit; 4y6m-walk; speech delay; intellectual disabilit; stereotypical movements, intolerance to frustration; seizures; joint hypermobility; no limb contractures; hypotelorism, upstlanted palpebral fissures, thin eyebrows, tall forehead; echo normal; 1y-MRI brain moderate hypotelorism, broad appearance eyeballs (symmetrical), horizontalization middle cerebellar peduncles, no vermian anomaly; craniosynostosis, strabismus, recurrent upper airway infections; functional heart murmur Inheritance Familial, autosomal recessive Age/Examination 4y7m (4 years, 7 months) 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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