Global Variome shared LOVD

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Phenotype #0000337167 Individual ID 00447978 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite WSKA Phenotype details see paper; ..., delayed motor development, speech delay; no autism spectrum disorder; ptosis; no down slanting palpebral fissures; arched eyebrows; no short upturned nose with bulbous tip; exaggerated cupid bow/wide philtrum; feeding issues; epicanthal folds; low set ears; no craniosynostosis, no metopic ridging; hypotonia; hypertelorism; normal MRI; no congenital heart disease; fifth finger clinodactyly Inheritance Isolated (sporadic) Age/Examination 16m 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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