Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000051370 Individual ID 00065265 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), Beau’s lines (HP:?), leukonychia (HP:0001820), retinal pigmentation (HP:0007703), macular dystrophy (HP:0007754) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 29y (29 years) Age/Diagnosis 02y06m Age/Onset - Phenotype/Onset - Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-05-24 15:57:40 +02:00 (CEST) Date last edited 2017-03-19 16:17:25 +01:00 (CET)

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