Global Variome shared LOVD

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Phenotype #0000016182 Individual ID 00016950 Associated disease BOFS Phenotype details born 39w pregnancy, birth weight 2250g, birth height 49cm; 7m-hospitalisedfor surgical treatment bilateral lip/palate cleft; dolichocephaly, elongated face, ellipsoidal eye shape, areas of bilateral linear aplasia skin neck, strabismus; right nasolacrimal canal stenosis, retinal coloboma; otoscopy shows dilatation external auditory canal and right internal auditory canal, hyperplasia auditory ossicles, bilateral conductive hearing loss; normal psychomotor/intellectual developmentnormal; no congenital heart defects or abnormalities urinary system (ultrasound investigation, echocardiography) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andrey Marakhonov Database submission license No license selected Created by Johan den Dunnen Date created 2014-06-30 22:19:31 +02:00 (CEST) Date last edited 2015-10-11 04:08:51 +02:00 (CEST)

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