Global Variome shared LOVD

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

Phenotype #0000061055 Individual ID 00081470 Associated disease ARCL1C Phenotype details congenital generalized cutis laxa with facial involvement, pulmonary emphysema, pulmonary and systemic hypertension, late onset GBS sepsis, unilateral pyelic dilatation Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 6m 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 14:19:47 +02:00 (CEST) Date last edited N/A

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