Global Variome shared LOVD

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

Phenotype #0000016183 Individual ID 00016951 Associated disease BOFS Phenotype details born 38w pregnancy, birth weight 3100g; facial dysmorphism: bilateral upper lip cleft, dimples upper lip, low-set ears, parotid fistula, microgenia, branchial cysts neck, hair growth neck, ellipsoidal eye shape; first months frequent apnoeic spells and complicating respiratory failure resulting in superimposed tracheostomy tube; 8y-coloboma optic nerve, CT scan temporal bone right external auditory canal atresia 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 22:21:53 +02:00 (CEST) Date last edited 2015-10-11 04:02:42 +02:00 (CEST)

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