Global Variome shared LOVD

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

Phenotype #0000093271 Individual ID 00117883 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details MRDA syndrome; IQ65, sensineural hearing loss >50dB, conductive hearing loss, stapes fixation, teeth anomalies, growth curve follows 2SD, hypophosphatemia Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Jirko Kühnisch Database submission license No license selected Created by Jirko Kühnisch Date created 2012-02-03 15:51:30 +01:00 (CET) Date last edited 2012-02-03 15:53:36 +01:00 (CET)

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