Global Variome shared LOVD

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

Phenotype #0000155495 Individual ID 00207704 Associated disease STL4 Phenotype details Congenital sensorineural hearing loss High myopia Hypoplastic vitreous Snailtrack retinal degeneration with round retinal holes Early hip arthropathy Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein trwn2 Owner name Thomas Nixon Database submission license No license selected Created by Thomas Nixon Date created 2018-11-29 00:09:50 +01:00 (CET) Date last edited 2018-12-07 19:28:41 +01:00 (CET)

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