Global Variome shared LOVD

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

Phenotype #0000061051 Individual ID 00081466 Associated disease ARCL1C Phenotype details generalized congenital cutis laxa with facial involvement severe pulmonary emphysema, bronchomalacia peripheral pulmonary artery stenoses hypotonia prominent veins dilated pelvis left kidney Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 0m Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Bert Callewaert Database submission license No license selected Created by Bert Callewaert Date created 2012-06-18 13:43:53 +02:00 (CEST) Date last edited N/A

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