Global Variome shared LOVD

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

Phenotype #0000104168 Individual ID 00131950 Associated disease DBS Phenotype details Hypertelorism (HP:0000316), Broad forehead (HP:0000337), Parietal bossing (HP:0000242), Cryptorchidism (HP:0000028), Low-molecular-weight proteinuria (HP:0003126), Hypercalciuria (HP:0002150), Severe Myopia (HP:0011003), Retinal detachment (HP:0000541) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Mauro Longoni Database submission license No license selected Created by Mauro Longoni Date created 2017-10-04 22:49:14 +02:00 (CEST) Date last edited 2017-10-07 23:12:07 +02:00 (CEST)

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