Global Variome shared LOVD

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Phenotype #0000051376 Individual ID 00065270 Associated disease SNHL Phenotype details Amelogenesis imperfecta (HP:0000705), no intellectual disability (HP:0001249), bilateral sensorineural hearing loss (HP:0008619), profound sensorineural hearing impairment (HP:0011476), no Beau’s lines (-HP:?), no abnormality of the nail (-HP:0001597) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 19y (19 years) Age/Diagnosis 02y Age/Onset - Phenotype/Onset - Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-05-25 11:31:27 +02:00 (CEST) Date last edited 2017-03-19 16:21:05 +01:00 (CET)

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