Global Variome shared LOVD

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Phenotype #0000053404 Individual ID 00038516 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details facial dysmorphism including a round face, large and high forehead, highly arched eyebrows, horizontal palpebral fissures, telecanthus, strabismus, dysplastic and low-set ears, bulbous nose, small mouth, thin upper lip, prominent cheeks, and a square chin Growth delay (at age 2 years: weight 3rd centile, length -4 SD and OFC -0.5 SD) Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Sophie Nambot Database submission license No license selected Created by Johan den Dunnen Date created 2016-06-17 11:20:43 +02:00 (CEST) Date last edited N/A

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