Global Variome shared LOVD

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

Phenotype #0000185604 Individual ID 00245698 Associated disease - Phenotype details bilateral microtia characterized by small, malformed ears with a thickened helix and a superficial postauricular sulcus; developmental abnormalities of ossicular bones and mixed (sensorineural and conductive) hearing loss; no craniofacial, palatal or renal defects Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis 2y Age/Onset - Phenotype/Onset - Protein - Owner name Christine Seidman Database submission license No license selected Created by Christine Seidman Date created 2013-05-24 17:10:28 +02:00 (CEST) Date last edited 2013-05-26 14:01:49 +02:00 (CEST)

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