Global Variome shared LOVD

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Phenotype #0000171861 Individual ID 00227857 Associated disease DFNB Diagnosis/Initial deafness, autosomal recessive, type 82 (DFNB-82) Diagnosis/Definite - Phenotype details severe/profound hearing loss; no hearing aid; no motor delay; no communicative delay; no cognitive impairment; no ventriculomegaly; corpus callosum short, severely thin posteriorly; heterotopia moderate; frontal polymicrogyria subtle; cerebellar dysplasia; small interhemispheric cyst Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-05-18 08:56:33 +02:00 (CEST) Date last edited 2012-05-18 09:06:21 +02:00 (CEST)

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