Global Variome shared LOVD

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Phenotype #0000337165 Individual ID 00447975 Associated disease ? Diagnosis/Initial - Diagnosis/Definite WSKA Phenotype details see paper; ..., birth weight 3.5 kg (25%ile), height 33 cm (25%ile); height 118 cm (97%ile), OFC 49 cm (10%ile); no developmental delay, no autism spectrum disorder; hypotonia; normal head shape; corpus callosum dysgenesis; ptosis; down slanting palpebral fissures; arched eyebrows; epicanthal folds; short upturned nose with bulbous tip; marked cupid bow/wide philtrum Inheritance Isolated (sporadic) Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-02-07 20:33:51 +01:00 (CET) Date last edited N/A

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