Global Variome shared LOVD

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

Phenotype #0000046694 Individual ID 00060204 Associated disease BBS Phenotype details retinitis pigmentosa, postaxial polydactyly, weight gain anomaly, learning disabilities, kidney cysts, poor coordination Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset <10y Phenotype/Onset - Protein - Owner name María González-del Pozo Database submission license No license selected Created by María González-del Pozo Date created 2013-08-30 14:16:58 +02:00 (CEST) Date last edited N/A

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