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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