Global Variome shared LOVD

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

Phenotype #0000239701 Individual ID 00315956 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details sensorineural hearing loss; ambulant; no respiratory insufficiency; no scoliosis; primary ovarian failure uncertain due to age; failure to thrive Inheritance Familial, autosomal recessive Age/Examination 8y (8 years) Age/Diagnosis 4y Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-10-30 18:31:12 +01:00 (CET) Date last edited N/A

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