Global Variome shared LOVD

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Phenotype #0000337171 Individual ID 00447982 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite WSKA Phenotype details see paper; ..., individualized education program, special education; no autism spectrum disorder; ptosis; no down slanting palpebral fissures; arched eyebrows; no short upturned nose with bulbous tip; no exaggerated cupid bow/wide philtrum; no feeding issues; epicanthal folds; hearing loss; craniosynostosis/metopic ridging; no hypotonia; no hypertelorism; no congenital heart disease; no limb anomalies Inheritance Familial, autosomal dominant Age/Examination 14y (14 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 2024-02-08 09:26:31 +01:00 (CET) Date last edited N/A

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