Global Variome shared LOVD

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Phenotype #0000203083 Individual ID 00265280 Associated disease HL Phenotype details the patient was a seven-year-old female presenting with microcephaly, intellectual disability (mild mental retardation), bilateral sensorineural hearing loss and speech difficulty. Diagnosis/Initial Non syndromic hearing loss Inheritance Familial, autosomal recessive Diagnosis/Definite Non syndromic hearing loss Age/Examination 07y? (approximately 7 years) Age/Diagnosis 07y? Age/Onset ? Phenotype/Onset - Protein TMC1 Owner name Ehsan Razmara Database submission license No license selected Created by Ehsan Razmara Date created 2019-09-19 06:40:26 +02:00 (CEST) Date last edited 2019-09-20 12:02:55 +02:00 (CEST)

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