Global Variome shared LOVD

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Phenotype #0000349705 Individual ID 00462205 Associated disease NDD Diagnosis/Initial dysmorphism Diagnosis/Definite - Phenotype details see paper; ..., no microcephaly; no epilepsy; normal muscle tone; MRI brain abnormal; systemic dysphagia; tube feeding; no cryptorchidism; congenital heart disease; dysconjugate gaze, hypertelorism, long eyelashes, upturned ears with fleshy lobes and mid-lobe indentation, short upturned nose, wide philtrum with deep grooves Inheritance Isolated (sporadic) Age/Examination 6m 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 2025-02-01 10:13:54 +01:00 (CET) Date last edited N/A

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