Global Variome shared LOVD

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Phenotype #0000171847 Individual ID 00227841 Associated disease CMCS Phenotype details profound hearing loss; cochlear implant; no motor delay; mild, resolved communicative delay; no cognitive impairment; downslanting palpebral fissures, rotated ears, nasal voice; shunted hydrocephalus; corpus callosum probable partial agenesis; heterotopia unknown; frontal polymicrogyria unknown; cerebellar dysplasia unknown Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - 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 08:59:53 +02:00 (CEST)

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