Global Variome shared LOVD

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Phenotype #0000171851 Individual ID 00227845 Associated disease CMCS Phenotype details profound hearing loss; cochlear implant; mild motor delay; no communicative delay; no cognitive impairment; ventriculomegaly; corpus callosum posterior agenesis; heterotopia large; frontal polymicrogyria extensive; cerebellar dysplasia; large interhemispheric and small bilateral cerebellopontine angle cysts 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 09:02:15 +02:00 (CEST)

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