Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000053399 Individual ID 00038520 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details facial dysmorphism included brachycephaly, round face, prominent metopic ridge, large and high forehead, highly arched eyebrows, horizontal palpebral fissures, enophtalmia, bulbous nose, small mouth, thin lips, prominent cheeks and square chin Growth delay (at 9.5 years: weight 25th centile, length -2.5 SD, OFC -4 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 11:06:56 +02:00 (CEST) Date last edited 2016-06-17 11:16:28 +02:00 (CEST)

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