Global Variome shared LOVD

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Phenotype #0000074305 Individual ID 00096029 Associated disease ? Diagnosis/Initial - Diagnosis/Definite WSKA Phenotype details see paper; ..., birth weight 3.2 kg (40%ile); height 91 cm (27%ile), OFC 50.5 cm (56%ile); developmental delay, autism spectrum disorder; no hypotonia; metopic ridge; no corpus callosum dysgenesis; ptosis; down slanting palpebral fissures; arched eyebrows; epicanthal folds; short upturned nose with bulbous tip; no marked cupid bow/wide philtrum Inheritance Isolated (sporadic) Age/Examination 02y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Karin Weiss Database submission license No license selected Created by Karin Weiss Date created 2017-01-27 22:26:56 +01:00 (CET) Date last edited 2024-02-07 19:56:14 +01:00 (CET)

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