Global Variome shared LOVD

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

Phenotype #0000067384 Individual ID 00087858 Associated disease LCA Phenotype details No features of deafness, neurologic impairment or mental deficiency; normal ekg; ct scannormal; erg nonrecordable; fundus shows pigmentary retinopathy with attenuated vessels Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset ? Phenotype/Onset - Protein - Owner name Raheel Qamar Database submission license No license selected Created by Raheel Qamar Date created 2012-09-06 09:49:01 +02:00 (CEST) Date last edited N/A

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